SNP Links for Protein (Select 750321479) - SNP

Links from Protein

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Select item 14903183731.

rs1490318373 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:82957371 (GRCh38)
6:83667090 (GRCh37)
Canonical SPDI:: NC_000006.12:82957370:T:C
Gene:: UBE3D (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.82957371T>C, NC_000006.11:g.83667090T>C, XM_011536238.4:c.1090A>G, XM_011536238.3:c.1090A>G, XM_011536238.2:c.1090A>G, XM_011536238.1:c.1090A>G, XM_011536241.4:c.1090A>G, XM_011536241.3:c.1090A>G, XM_011536241.2:c.1090A>G, XM_011536241.1:c.1090A>G, XM_011536240.3:c.1090A>G, XM_011536240.2:c.1090A>G, XM_011536240.1:c.1090A>G, XM_017011459.3:c.1090A>G, XM_017011459.2:c.1090A>G, XM_017011459.1:c.1090A>G, NM_198920.3:c.1090A>G, NM_198920.2:c.1090A>G, NM_198920.1:c.1090A>G, XM_017011458.3:c.1090A>G, XM_017011458.2:c.1090A>G, XM_017011458.1:c.1090A>G, NR_146807.2:n.1335A>G, NR_146807.1:n.1335A>G, NR_146808.2:n.1309A>G, NR_146808.1:n.1309A>G, NM_001350602.2:c.994A>G, NM_001350602.1:c.994A>G, NM_001350604.2:c.529A>G, NM_001350604.1:c.529A>G, NR_146809.2:n.1187A>G, NR_146809.1:n.1187A>G, NM_001304437.2:c.994A>G, NM_001304437.1:c.994A>G, NM_001350603.2:c.529A>G, NM_001350603.1:c.529A>G, XM_047419505.1:c.529A>G, XP_011534540.1:p.Ile364Val, XP_011534543.1:p.Ile364Val, XP_011534542.1:p.Ile364Val, XP_016866948.1:p.Ile364Val, NP_944602.1:p.Ile364Val, XP_016866947.1:p.Ile364Val, NP_001337531.1:p.Ile332Val, NP_001337533.1:p.Ile177Val, NP_001291366.1:p.Ile332Val, NP_001337532.1:p.Ile177Val, XP_047275461.1:p.Ile177Val

Select item 14901548962.

rs1490154896 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:83022491 (GRCh38)
6:83732210 (GRCh37)
Canonical SPDI:: NC_000006.12:83022490:A:G
Gene:: UBE3D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000006.12:g.83022491A>G, NC_000006.11:g.83732210A>G, XM_011536238.4:c.808T>C, XM_011536238.3:c.808T>C, XM_011536238.2:c.808T>C, XM_011536238.1:c.808T>C, XM_011536241.4:c.808T>C, XM_011536241.3:c.808T>C, XM_011536241.2:c.808T>C, XM_011536241.1:c.808T>C, XM_011536240.3:c.808T>C, XM_011536240.2:c.808T>C, XM_011536240.1:c.808T>C, XM_017011459.3:c.808T>C, XM_017011459.2:c.808T>C, XM_017011459.1:c.808T>C, NM_198920.3:c.808T>C, NM_198920.2:c.808T>C, NM_198920.1:c.808T>C, XM_017011458.3:c.808T>C, XM_017011458.2:c.808T>C, XM_017011458.1:c.808T>C, NR_146807.2:n.1053T>C, NR_146807.1:n.1053T>C, NR_146808.2:n.1053T>C, NR_146808.1:n.1053T>C, NM_001350602.2:c.712T>C, NM_001350602.1:c.712T>C, NM_001350604.2:c.247T>C, NM_001350604.1:c.247T>C, NR_146809.2:n.931T>C, NR_146809.1:n.931T>C, NM_001304437.2:c.712T>C, NM_001304437.1:c.712T>C, NM_001350603.2:c.247T>C, NM_001350603.1:c.247T>C, XM_047419504.1:c.808T>C, NM_001410933.1:c.808T>C, XM_047419505.1:c.247T>C, XP_011534540.1:p.Phe270Leu, XP_011534543.1:p.Phe270Leu, XP_011534542.1:p.Phe270Leu, XP_016866948.1:p.Phe270Leu, NP_944602.1:p.Phe270Leu, XP_016866947.1:p.Phe270Leu, NP_001337531.1:p.Phe238Leu, NP_001337533.1:p.Phe83Leu, NP_001291366.1:p.Phe238Leu, NP_001337532.1:p.Phe83Leu, XP_047275460.1:p.Phe270Leu, XP_047275461.1:p.Phe83Leu

Select item 14900396853.

rs1490039685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:83044543 (GRCh38)
6:83754262 (GRCh37)
Canonical SPDI:: NC_000006.12:83044542:C:T
Gene:: UBE3D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83044543C>T, NC_000006.11:g.83754262C>T, XM_011536238.4:c.482G>A, XM_011536238.3:c.482G>A, XM_011536238.2:c.482G>A, XM_011536238.1:c.482G>A, XM_011536241.4:c.482G>A, XM_011536241.3:c.482G>A, XM_011536241.2:c.482G>A, XM_011536241.1:c.482G>A, XM_011536240.3:c.482G>A, XM_011536240.2:c.482G>A, XM_011536240.1:c.482G>A, XM_017011459.3:c.482G>A, XM_017011459.2:c.482G>A, XM_017011459.1:c.482G>A, NM_198920.3:c.482G>A, NM_198920.2:c.482G>A, NM_198920.1:c.482G>A, XM_017011458.3:c.482G>A, XM_017011458.2:c.482G>A, XM_017011458.1:c.482G>A, NR_146807.2:n.605G>A, NR_146807.1:n.605G>A, NR_146808.2:n.605G>A, NR_146808.1:n.605G>A, NM_001350602.2:c.386G>A, NM_001350602.1:c.386G>A, NM_001350604.2:c.-80G>A, NM_001350604.1:c.-80G>A, NR_146809.2:n.605G>A, NR_146809.1:n.605G>A, NM_001304437.2:c.386G>A, NM_001304437.1:c.386G>A, NM_001350603.2:c.-80G>A, NM_001350603.1:c.-80G>A, XM_047419504.1:c.482G>A, NM_001410933.1:c.482G>A, XM_047419505.1:c.-80G>A, XM_047419506.1:c.482G>A, XR_007059385.1:n.605G>A, XP_011534540.1:p.Cys161Tyr, XP_011534543.1:p.Cys161Tyr, XP_011534542.1:p.Cys161Tyr, XP_016866948.1:p.Cys161Tyr, NP_944602.1:p.Cys161Tyr, XP_016866947.1:p.Cys161Tyr, NP_001337531.1:p.Cys129Tyr, NP_001291366.1:p.Cys129Tyr, XP_047275460.1:p.Cys161Tyr, XP_047275462.1:p.Cys161Tyr

Select item 14898181434.

rs1489818143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:83038459 (GRCh38)
6:83748178 (GRCh37)
Canonical SPDI:: NC_000006.12:83038458:A:G
Gene:: UBE3D (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.83038459A>G, NC_000006.11:g.83748178A>G, XM_011536238.4:c.624T>C, XM_011536238.3:c.624T>C, XM_011536238.2:c.624T>C, XM_011536238.1:c.624T>C, XM_011536241.4:c.624T>C, XM_011536241.3:c.624T>C, XM_011536241.2:c.624T>C, XM_011536241.1:c.624T>C, XM_011536240.3:c.624T>C, XM_011536240.2:c.624T>C, XM_011536240.1:c.624T>C, XM_017011459.3:c.624T>C, XM_017011459.2:c.624T>C, XM_017011459.1:c.624T>C, NM_198920.3:c.624T>C, NM_198920.2:c.624T>C, NM_198920.1:c.624T>C, XM_017011458.3:c.624T>C, XM_017011458.2:c.624T>C, XM_017011458.1:c.624T>C, NR_146807.2:n.747T>C, NR_146807.1:n.747T>C, NR_146808.2:n.747T>C, NR_146808.1:n.747T>C, NM_001350602.2:c.528T>C, NM_001350602.1:c.528T>C, NM_001350604.2:c.63T>C, NM_001350604.1:c.63T>C, NR_146809.2:n.747T>C, NR_146809.1:n.747T>C, NM_001304437.2:c.528T>C, NM_001304437.1:c.528T>C, NM_001350603.2:c.63T>C, NM_001350603.1:c.63T>C, XM_047419504.1:c.624T>C, NM_001410933.1:c.624T>C, XM_047419505.1:c.63T>C, XM_047419506.1:c.624T>C, XR_007059385.1:n.747T>C

Select item 14891029465.

rs1489102946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:82957416 (GRCh38)
6:83667135 (GRCh37)
Canonical SPDI:: NC_000006.12:82957415:G:A
Gene:: UBE3D (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.82957416G>A, NC_000006.11:g.83667135G>A, XM_011536238.4:c.1045C>T, XM_011536238.3:c.1045C>T, XM_011536238.2:c.1045C>T, XM_011536238.1:c.1045C>T, XM_011536241.4:c.1045C>T, XM_011536241.3:c.1045C>T, XM_011536241.2:c.1045C>T, XM_011536241.1:c.1045C>T, XM_011536240.3:c.1045C>T, XM_011536240.2:c.1045C>T, XM_011536240.1:c.1045C>T, XM_017011459.3:c.1045C>T, XM_017011459.2:c.1045C>T, XM_017011459.1:c.1045C>T, NM_198920.3:c.1045C>T, NM_198920.2:c.1045C>T, NM_198920.1:c.1045C>T, XM_017011458.3:c.1045C>T, XM_017011458.2:c.1045C>T, XM_017011458.1:c.1045C>T, NR_146807.2:n.1290C>T, NR_146807.1:n.1290C>T, NR_146808.2:n.1264C>T, NR_146808.1:n.1264C>T, NM_001350602.2:c.949C>T, NM_001350602.1:c.949C>T, NM_001350604.2:c.484C>T, NM_001350604.1:c.484C>T, NR_146809.2:n.1142C>T, NR_146809.1:n.1142C>T, NM_001304437.2:c.949C>T, NM_001304437.1:c.949C>T, NM_001350603.2:c.484C>T, NM_001350603.1:c.484C>T, XM_047419505.1:c.484C>T, XP_011534540.1:p.His349Tyr, XP_011534543.1:p.His349Tyr, XP_011534542.1:p.His349Tyr, XP_016866948.1:p.His349Tyr, NP_944602.1:p.His349Tyr, XP_016866947.1:p.His349Tyr, NP_001337531.1:p.His317Tyr, NP_001337533.1:p.His162Tyr, NP_001291366.1:p.His317Tyr, NP_001337532.1:p.His162Tyr, XP_047275461.1:p.His162Tyr

Select item 14886530866.

rs1488653086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:83057940 (GRCh38)
6:83767659 (GRCh37)
Canonical SPDI:: NC_000006.12:83057939:C:G
Gene:: UBE3D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.83057940C>G, NC_000006.11:g.83767659C>G, XM_011536238.4:c.160G>C, XM_011536238.3:c.160G>C, XM_011536238.2:c.160G>C, XM_011536238.1:c.160G>C, XM_011536241.4:c.160G>C, XM_011536241.3:c.160G>C, XM_011536241.2:c.160G>C, XM_011536241.1:c.160G>C, XM_011536240.3:c.160G>C, XM_011536240.2:c.160G>C, XM_011536240.1:c.160G>C, XM_017011459.3:c.160G>C, XM_017011459.2:c.160G>C, XM_017011459.1:c.160G>C, NM_198920.3:c.160G>C, NM_198920.2:c.160G>C, NM_198920.1:c.160G>C, XM_017011458.3:c.160G>C, XM_017011458.2:c.160G>C, XM_017011458.1:c.160G>C, NR_146807.2:n.283G>C, NR_146807.1:n.283G>C, NR_146808.2:n.283G>C, NR_146808.1:n.283G>C, NM_001350602.2:c.64G>C, NM_001350602.1:c.64G>C, NM_001350604.2:c.-466G>C, NM_001350604.1:c.-466G>C, NR_146809.2:n.283G>C, NR_146809.1:n.283G>C, NM_001304437.2:c.64G>C, NM_001304437.1:c.64G>C, NM_001350603.2:c.-311G>C, NM_001350603.1:c.-311G>C, XM_047419504.1:c.160G>C, NM_001410933.1:c.160G>C, XM_047419506.1:c.160G>C, XR_007059385.1:n.283G>C, XP_011534540.1:p.Glu54Gln, XP_011534543.1:p.Glu54Gln, XP_011534542.1:p.Glu54Gln, XP_016866948.1:p.Glu54Gln, NP_944602.1:p.Glu54Gln, XP_016866947.1:p.Glu54Gln, NP_001337531.1:p.Glu22Gln, NP_001291366.1:p.Glu22Gln, XP_047275460.1:p.Glu54Gln, XP_047275462.1:p.Glu54Gln

Select item 14884269047.

rs1488426904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:83024035 (GRCh38)
6:83733754 (GRCh37)
Canonical SPDI:: NC_000006.12:83024034:G:C
Gene:: UBE3D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.83024035G>C, NC_000006.11:g.83733754G>C, XM_011536238.4:c.671C>G, XM_011536238.3:c.671C>G, XM_011536238.2:c.671C>G, XM_011536238.1:c.671C>G, XM_011536241.4:c.671C>G, XM_011536241.3:c.671C>G, XM_011536241.2:c.671C>G, XM_011536241.1:c.671C>G, XM_011536240.3:c.671C>G, XM_011536240.2:c.671C>G, XM_011536240.1:c.671C>G, XM_017011459.3:c.671C>G, XM_017011459.2:c.671C>G, XM_017011459.1:c.671C>G, NM_198920.3:c.671C>G, NM_198920.2:c.671C>G, NM_198920.1:c.671C>G, XM_017011458.3:c.671C>G, XM_017011458.2:c.671C>G, XM_017011458.1:c.671C>G, NR_146807.2:n.916C>G, NR_146807.1:n.916C>G, NR_146808.2:n.916C>G, NR_146808.1:n.916C>G, NM_001350602.2:c.575C>G, NM_001350602.1:c.575C>G, NM_001350604.2:c.110C>G, NM_001350604.1:c.110C>G, NR_146809.2:n.794C>G, NR_146809.1:n.794C>G, NM_001304437.2:c.575C>G, NM_001304437.1:c.575C>G, NM_001350603.2:c.110C>G, NM_001350603.1:c.110C>G, XM_047419504.1:c.671C>G, NM_001410933.1:c.671C>G, XM_047419505.1:c.110C>G, XM_047419506.1:c.671C>G, XR_007059385.1:n.899C>G, XP_011534540.1:p.Thr224Ser, XP_011534543.1:p.Thr224Ser, XP_011534542.1:p.Thr224Ser, XP_016866948.1:p.Thr224Ser, NP_944602.1:p.Thr224Ser, XP_016866947.1:p.Thr224Ser, NP_001337531.1:p.Thr192Ser, NP_001337533.1:p.Thr37Ser, NP_001291366.1:p.Thr192Ser, NP_001337532.1:p.Thr37Ser, XP_047275460.1:p.Thr224Ser, XP_047275461.1:p.Thr37Ser, XP_047275462.1:p.Thr224Ser

Select item 14827565018.

rs1482756501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:83057922 (GRCh38)
6:83767641 (GRCh37)
Canonical SPDI:: NC_000006.12:83057921:C:T
Gene:: UBE3D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.83057922C>T, NC_000006.11:g.83767641C>T, XM_011536238.4:c.178G>A, XM_011536238.3:c.178G>A, XM_011536238.2:c.178G>A, XM_011536238.1:c.178G>A, XM_011536241.4:c.178G>A, XM_011536241.3:c.178G>A, XM_011536241.2:c.178G>A, XM_011536241.1:c.178G>A, XM_011536240.3:c.178G>A, XM_011536240.2:c.178G>A, XM_011536240.1:c.178G>A, XM_017011459.3:c.178G>A, XM_017011459.2:c.178G>A, XM_017011459.1:c.178G>A, NM_198920.3:c.178G>A, NM_198920.2:c.178G>A, NM_198920.1:c.178G>A, XM_017011458.3:c.178G>A, XM_017011458.2:c.178G>A, XM_017011458.1:c.178G>A, NR_146807.2:n.301G>A, NR_146807.1:n.301G>A, NR_146808.2:n.301G>A, NR_146808.1:n.301G>A, NM_001350602.2:c.82G>A, NM_001350602.1:c.82G>A, NM_001350604.2:c.-448G>A, NM_001350604.1:c.-448G>A, NR_146809.2:n.301G>A, NR_146809.1:n.301G>A, NM_001304437.2:c.82G>A, NM_001304437.1:c.82G>A, NM_001350603.2:c.-293G>A, NM_001350603.1:c.-293G>A, XM_047419504.1:c.178G>A, NM_001410933.1:c.178G>A, XM_047419506.1:c.178G>A, XR_007059385.1:n.301G>A, XP_011534540.1:p.Glu60Lys, XP_011534543.1:p.Glu60Lys, XP_011534542.1:p.Glu60Lys, XP_016866948.1:p.Glu60Lys, NP_944602.1:p.Glu60Lys, XP_016866947.1:p.Glu60Lys, NP_001337531.1:p.Glu28Lys, NP_001291366.1:p.Glu28Lys, XP_047275460.1:p.Glu60Lys, XP_047275462.1:p.Glu60Lys

Select item 14813550109.

rs1481355010 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:83057956 (GRCh38)
6:83767675 (GRCh37)
Canonical SPDI:: NC_000006.12:83057955:G:A
Gene:: UBE3D (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.83057956G>A, NC_000006.11:g.83767675G>A, XM_011536238.4:c.144C>T, XM_011536238.3:c.144C>T, XM_011536238.2:c.144C>T, XM_011536238.1:c.144C>T, XM_011536241.4:c.144C>T, XM_011536241.3:c.144C>T, XM_011536241.2:c.144C>T, XM_011536241.1:c.144C>T, XM_011536240.3:c.144C>T, XM_011536240.2:c.144C>T, XM_011536240.1:c.144C>T, XM_017011459.3:c.144C>T, XM_017011459.2:c.144C>T, XM_017011459.1:c.144C>T, NM_198920.3:c.144C>T, NM_198920.2:c.144C>T, NM_198920.1:c.144C>T, XM_017011458.3:c.144C>T, XM_017011458.2:c.144C>T, XM_017011458.1:c.144C>T, NR_146807.2:n.267C>T, NR_146807.1:n.267C>T, NR_146808.2:n.267C>T, NR_146808.1:n.267C>T, NM_001350602.2:c.48C>T, NM_001350602.1:c.48C>T, NM_001350604.2:c.-482C>T, NM_001350604.1:c.-482C>T, NR_146809.2:n.267C>T, NR_146809.1:n.267C>T, NM_001304437.2:c.48C>T, NM_001304437.1:c.48C>T, NM_001350603.2:c.-327C>T, NM_001350603.1:c.-327C>T, XM_047419504.1:c.144C>T, NM_001410933.1:c.144C>T, XM_047419506.1:c.144C>T, XR_007059385.1:n.267C>T

Select item 148079572310.

rs1480795723 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:83024002 (GRCh38)
6:83733721 (GRCh37)
Canonical SPDI:: NC_000006.12:83024001:T:C
Gene:: UBE3D (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.83024002T>C, NC_000006.11:g.83733721T>C, XM_011536238.4:c.704A>G, XM_011536238.3:c.704A>G, XM_011536238.2:c.704A>G, XM_011536238.1:c.704A>G, XM_011536241.4:c.704A>G, XM_011536241.3:c.704A>G, XM_011536241.2:c.704A>G, XM_011536241.1:c.704A>G, XM_011536240.3:c.704A>G, XM_011536240.2:c.704A>G, XM_011536240.1:c.704A>G, XM_017011459.3:c.704A>G, XM_017011459.2:c.704A>G, XM_017011459.1:c.704A>G, NM_198920.3:c.704A>G, NM_198920.2:c.704A>G, NM_198920.1:c.704A>G, XM_017011458.3:c.704A>G, XM_017011458.2:c.704A>G, XM_017011458.1:c.704A>G, NR_146807.2:n.949A>G, NR_146807.1:n.949A>G, NR_146808.2:n.949A>G, NR_146808.1:n.949A>G, NM_001350602.2:c.608A>G, NM_001350602.1:c.608A>G, NM_001350604.2:c.143A>G, NM_001350604.1:c.143A>G, NR_146809.2:n.827A>G, NR_146809.1:n.827A>G, NM_001304437.2:c.608A>G, NM_001304437.1:c.608A>G, NM_001350603.2:c.143A>G, NM_001350603.1:c.143A>G, XM_047419504.1:c.704A>G, NM_001410933.1:c.704A>G, XM_047419505.1:c.143A>G, XM_047419506.1:c.704A>G, XR_007059385.1:n.932A>G, XP_011534540.1:p.Gln235Arg, XP_011534543.1:p.Gln235Arg, XP_011534542.1:p.Gln235Arg, XP_016866948.1:p.Gln235Arg, NP_944602.1:p.Gln235Arg, XP_016866947.1:p.Gln235Arg, NP_001337531.1:p.Gln203Arg, NP_001337533.1:p.Gln48Arg, NP_001291366.1:p.Gln203Arg, NP_001337532.1:p.Gln48Arg, XP_047275460.1:p.Gln235Arg, XP_047275461.1:p.Gln48Arg, XP_047275462.1:p.Gln235Arg

Select item 148054524611.

rs1480545246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:82957334 (GRCh38)
6:83667053 (GRCh37)
Canonical SPDI:: NC_000006.12:82957333:A:C
Gene:: UBE3D (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.82957334A>C, NC_000006.11:g.83667053A>C, XM_011536238.4:c.1127T>G, XM_011536238.3:c.1127T>G, XM_011536238.2:c.1127T>G, XM_011536238.1:c.1127T>G, XM_011536241.4:c.1127T>G, XM_011536241.3:c.1127T>G, XM_011536241.2:c.1127T>G, XM_011536241.1:c.1127T>G, XM_011536240.3:c.1127T>G, XM_011536240.2:c.1127T>G, XM_011536240.1:c.1127T>G, XM_017011459.3:c.1127T>G, XM_017011459.2:c.1127T>G, XM_017011459.1:c.1127T>G, NM_198920.3:c.1127T>G, NM_198920.2:c.1127T>G, NM_198920.1:c.1127T>G, XM_017011458.3:c.1127T>G, XM_017011458.2:c.1127T>G, XM_017011458.1:c.1127T>G, NR_146807.2:n.1372T>G, NR_146807.1:n.1372T>G, NR_146808.2:n.1346T>G, NR_146808.1:n.1346T>G, NM_001350602.2:c.1031T>G, NM_001350602.1:c.1031T>G, NM_001350604.2:c.566T>G, NM_001350604.1:c.566T>G, NR_146809.2:n.1224T>G, NR_146809.1:n.1224T>G, NM_001304437.2:c.1031T>G, NM_001304437.1:c.1031T>G, NM_001350603.2:c.566T>G, NM_001350603.1:c.566T>G, XM_047419505.1:c.566T>G, XP_011534540.1:p.Leu376Arg, XP_011534543.1:p.Leu376Arg, XP_011534542.1:p.Leu376Arg, XP_016866948.1:p.Leu376Arg, NP_944602.1:p.Leu376Arg, XP_016866947.1:p.Leu376Arg, NP_001337531.1:p.Leu344Arg, NP_001337533.1:p.Leu189Arg, NP_001291366.1:p.Leu344Arg, NP_001337532.1:p.Leu189Arg, XP_047275461.1:p.Leu189Arg

Select item 146849131412.

rs1468491314 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:83019104 (GRCh38)
6:83728823 (GRCh37)
Canonical SPDI:: NC_000006.12:83019103:A:C
Gene:: UBE3D (Varview)
Functional Consequence:: missense_variant,terminator_codon_variant,coding_sequence_variant,non_coding_transcript_variant,stop_lost,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83019104A>C, NC_000006.11:g.83728823A>C, XM_011536238.4:c.879T>G, XM_011536238.3:c.879T>G, XM_011536238.2:c.879T>G, XM_011536238.1:c.879T>G, XM_011536241.4:c.879T>G, XM_011536241.3:c.879T>G, XM_011536241.2:c.879T>G, XM_011536241.1:c.879T>G, XM_011536240.3:c.879T>G, XM_011536240.2:c.879T>G, XM_011536240.1:c.879T>G, XM_017011459.3:c.879T>G, XM_017011459.2:c.879T>G, XM_017011459.1:c.879T>G, NM_198920.3:c.879T>G, NM_198920.2:c.879T>G, NM_198920.1:c.879T>G, XM_017011458.3:c.879T>G, XM_017011458.2:c.879T>G, XM_017011458.1:c.879T>G, NR_146807.2:n.1124T>G, NR_146807.1:n.1124T>G, NR_146808.2:n.1098T>G, NR_146808.1:n.1098T>G, NM_001350602.2:c.783T>G, NM_001350602.1:c.783T>G, NM_001350604.2:c.318T>G, NM_001350604.1:c.318T>G, NR_146809.2:n.976T>G, NR_146809.1:n.976T>G, NM_001304437.2:c.783T>G, NM_001304437.1:c.783T>G, NM_001350603.2:c.318T>G, NM_001350603.1:c.318T>G, XM_047419504.1:c.853T>G, NM_001410933.1:c.853T>G, XM_047419505.1:c.318T>G, XP_011534540.1:p.Ile293Met, XP_011534543.1:p.Ile293Met, XP_011534542.1:p.Ile293Met, XP_016866948.1:p.Ile293Met, NP_944602.1:p.Ile293Met, XP_016866947.1:p.Ile293Met, NP_001337531.1:p.Ile261Met, NP_001337533.1:p.Ile106Met, NP_001291366.1:p.Ile261Met, NP_001337532.1:p.Ile106Met, XP_047275460.1:p.Ter285Gly, XP_047275461.1:p.Ile106Met

Select item 146434996413.

rs1464349964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:83054151 (GRCh38)
6:83763870 (GRCh37)
Canonical SPDI:: NC_000006.12:83054150:T:G
Gene:: UBE3D (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.83054151T>G, NC_000006.11:g.83763870T>G, XM_011536238.4:c.362A>C, XM_011536238.3:c.362A>C, XM_011536238.2:c.362A>C, XM_011536238.1:c.362A>C, XM_011536241.4:c.362A>C, XM_011536241.3:c.362A>C, XM_011536241.2:c.362A>C, XM_011536241.1:c.362A>C, XM_011536240.3:c.362A>C, XM_011536240.2:c.362A>C, XM_011536240.1:c.362A>C, XM_017011459.3:c.362A>C, XM_017011459.2:c.362A>C, XM_017011459.1:c.362A>C, NM_198920.3:c.362A>C, NM_198920.2:c.362A>C, NM_198920.1:c.362A>C, XM_017011458.3:c.362A>C, XM_017011458.2:c.362A>C, XM_017011458.1:c.362A>C, NR_146807.2:n.485A>C, NR_146807.1:n.485A>C, NR_146808.2:n.485A>C, NR_146808.1:n.485A>C, NM_001350602.2:c.266A>C, NM_001350602.1:c.266A>C, NM_001350604.2:c.-264A>C, NM_001350604.1:c.-264A>C, NR_146809.2:n.485A>C, NR_146809.1:n.485A>C, NM_001304437.2:c.266A>C, NM_001304437.1:c.266A>C, XM_047419504.1:c.362A>C, NM_001410933.1:c.362A>C, XM_047419505.1:c.-264A>C, XM_047419506.1:c.362A>C, XR_007059385.1:n.485A>C, XP_011534540.1:p.Asp121Ala, XP_011534543.1:p.Asp121Ala, XP_011534542.1:p.Asp121Ala, XP_016866948.1:p.Asp121Ala, NP_944602.1:p.Asp121Ala, XP_016866947.1:p.Asp121Ala, NP_001337531.1:p.Asp89Ala, NP_001291366.1:p.Asp89Ala, XP_047275460.1:p.Asp121Ala, XP_047275462.1:p.Asp121Ala

Select item 146123707614.

rs1461237076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:83044636 (GRCh38)
6:83754355 (GRCh37)
Canonical SPDI:: NC_000006.12:83044635:A:G
Gene:: UBE3D (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.83044636A>G, NC_000006.11:g.83754355A>G, XM_011536238.4:c.389T>C, XM_011536238.3:c.389T>C, XM_011536238.2:c.389T>C, XM_011536238.1:c.389T>C, XM_011536241.4:c.389T>C, XM_011536241.3:c.389T>C, XM_011536241.2:c.389T>C, XM_011536241.1:c.389T>C, XM_011536240.3:c.389T>C, XM_011536240.2:c.389T>C, XM_011536240.1:c.389T>C, XM_017011459.3:c.389T>C, XM_017011459.2:c.389T>C, XM_017011459.1:c.389T>C, NM_198920.3:c.389T>C, NM_198920.2:c.389T>C, NM_198920.1:c.389T>C, XM_017011458.3:c.389T>C, XM_017011458.2:c.389T>C, XM_017011458.1:c.389T>C, NR_146807.2:n.512T>C, NR_146807.1:n.512T>C, NR_146808.2:n.512T>C, NR_146808.1:n.512T>C, NM_001350602.2:c.293T>C, NM_001350602.1:c.293T>C, NM_001350604.2:c.-173T>C, NM_001350604.1:c.-173T>C, NR_146809.2:n.512T>C, NR_146809.1:n.512T>C, NM_001304437.2:c.293T>C, NM_001304437.1:c.293T>C, NM_001350603.2:c.-173T>C, NM_001350603.1:c.-173T>C, XM_047419504.1:c.389T>C, NM_001410933.1:c.389T>C, XM_047419505.1:c.-173T>C, XM_047419506.1:c.389T>C, XR_007059385.1:n.512T>C, XP_011534540.1:p.Leu130Pro, XP_011534543.1:p.Leu130Pro, XP_011534542.1:p.Leu130Pro, XP_016866948.1:p.Leu130Pro, NP_944602.1:p.Leu130Pro, XP_016866947.1:p.Leu130Pro, NP_001337531.1:p.Leu98Pro, NP_001291366.1:p.Leu98Pro, XP_047275460.1:p.Leu130Pro, XP_047275462.1:p.Leu130Pro

Select item 145923144215.

rs1459231442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:83019084 (GRCh38)
6:83728803 (GRCh37)
Canonical SPDI:: NC_000006.12:83019083:T:G
Gene:: UBE3D (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000036/5 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.83019084T>G, NC_000006.11:g.83728803T>G, XM_011536238.4:c.899A>C, XM_011536238.3:c.899A>C, XM_011536238.2:c.899A>C, XM_011536238.1:c.899A>C, XM_011536241.4:c.899A>C, XM_011536241.3:c.899A>C, XM_011536241.2:c.899A>C, XM_011536241.1:c.899A>C, XM_011536240.3:c.899A>C, XM_011536240.2:c.899A>C, XM_011536240.1:c.899A>C, XM_017011459.3:c.899A>C, XM_017011459.2:c.899A>C, XM_017011459.1:c.899A>C, NM_198920.3:c.899A>C, NM_198920.2:c.899A>C, NM_198920.1:c.899A>C, XM_017011458.3:c.899A>C, XM_017011458.2:c.899A>C, XM_017011458.1:c.899A>C, NR_146807.2:n.1144A>C, NR_146807.1:n.1144A>C, NR_146808.2:n.1118A>C, NR_146808.1:n.1118A>C, NM_001350602.2:c.803A>C, NM_001350602.1:c.803A>C, NM_001350604.2:c.338A>C, NM_001350604.1:c.338A>C, NR_146809.2:n.996A>C, NR_146809.1:n.996A>C, NM_001304437.2:c.803A>C, NM_001304437.1:c.803A>C, NM_001350603.2:c.338A>C, NM_001350603.1:c.338A>C, XM_047419504.1:c.*18A>C, NM_001410933.1:c.*18A>C, XM_047419505.1:c.338A>C, XP_011534540.1:p.Lys300Thr, XP_011534543.1:p.Lys300Thr, XP_011534542.1:p.Lys300Thr, XP_016866948.1:p.Lys300Thr, NP_944602.1:p.Lys300Thr, XP_016866947.1:p.Lys300Thr, NP_001337531.1:p.Lys268Thr, NP_001337533.1:p.Lys113Thr, NP_001291366.1:p.Lys268Thr, NP_001337532.1:p.Lys113Thr, XP_047275461.1:p.Lys113Thr

Select item 145896108416.

rs1458961084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:83019091 (GRCh38)
6:83728810 (GRCh37)
Canonical SPDI:: NC_000006.12:83019090:T:G
Gene:: UBE3D (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.83019091T>G, NC_000006.11:g.83728810T>G, XM_011536238.4:c.892A>C, XM_011536238.3:c.892A>C, XM_011536238.2:c.892A>C, XM_011536238.1:c.892A>C, XM_011536241.4:c.892A>C, XM_011536241.3:c.892A>C, XM_011536241.2:c.892A>C, XM_011536241.1:c.892A>C, XM_011536240.3:c.892A>C, XM_011536240.2:c.892A>C, XM_011536240.1:c.892A>C, XM_017011459.3:c.892A>C, XM_017011459.2:c.892A>C, XM_017011459.1:c.892A>C, NM_198920.3:c.892A>C, NM_198920.2:c.892A>C, NM_198920.1:c.892A>C, XM_017011458.3:c.892A>C, XM_017011458.2:c.892A>C, XM_017011458.1:c.892A>C, NR_146807.2:n.1137A>C, NR_146807.1:n.1137A>C, NR_146808.2:n.1111A>C, NR_146808.1:n.1111A>C, NM_001350602.2:c.796A>C, NM_001350602.1:c.796A>C, NM_001350604.2:c.331A>C, NM_001350604.1:c.331A>C, NR_146809.2:n.989A>C, NR_146809.1:n.989A>C, NM_001304437.2:c.796A>C, NM_001304437.1:c.796A>C, NM_001350603.2:c.331A>C, NM_001350603.1:c.331A>C, XM_047419504.1:c.*11A>C, NM_001410933.1:c.*11A>C, XM_047419505.1:c.331A>C, XP_011534540.1:p.Asn298His, XP_011534543.1:p.Asn298His, XP_011534542.1:p.Asn298His, XP_016866948.1:p.Asn298His, NP_944602.1:p.Asn298His, XP_016866947.1:p.Asn298His, NP_001337531.1:p.Asn266His, NP_001337533.1:p.Asn111His, NP_001291366.1:p.Asn266His, NP_001337532.1:p.Asn111His, XP_047275461.1:p.Asn111His

Select item 145526845317.

rs1455268453 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:83038438 (GRCh38)
6:83748157 (GRCh37)
Canonical SPDI:: NC_000006.12:83038437:C:A,NC_000006.12:83038437:C:T
Gene:: UBE3D (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.83038438C>A, NC_000006.12:g.83038438C>T, NC_000006.11:g.83748157C>A, NC_000006.11:g.83748157C>T, XM_011536238.4:c.645G>T, XM_011536238.4:c.645G>A, XM_011536238.3:c.645G>T, XM_011536238.3:c.645G>A, XM_011536238.2:c.645G>T, XM_011536238.2:c.645G>A, XM_011536238.1:c.645G>T, XM_011536238.1:c.645G>A, XM_011536241.4:c.645G>T, XM_011536241.4:c.645G>A, XM_011536241.3:c.645G>T, XM_011536241.3:c.645G>A, XM_011536241.2:c.645G>T, XM_011536241.2:c.645G>A, XM_011536241.1:c.645G>T, XM_011536241.1:c.645G>A, XM_011536240.3:c.645G>T, XM_011536240.3:c.645G>A, XM_011536240.2:c.645G>T, XM_011536240.2:c.645G>A, XM_011536240.1:c.645G>T, XM_011536240.1:c.645G>A, XM_017011459.3:c.645G>T, XM_017011459.3:c.645G>A, XM_017011459.2:c.645G>T, XM_017011459.2:c.645G>A, XM_017011459.1:c.645G>T, XM_017011459.1:c.645G>A, NM_198920.3:c.645G>T, NM_198920.3:c.645G>A, NM_198920.2:c.645G>T, NM_198920.2:c.645G>A, NM_198920.1:c.645G>T, NM_198920.1:c.645G>A, XM_017011458.3:c.645G>T, XM_017011458.3:c.645G>A, XM_017011458.2:c.645G>T, XM_017011458.2:c.645G>A, XM_017011458.1:c.645G>T, XM_017011458.1:c.645G>A, NR_146807.2:n.768G>T, NR_146807.2:n.768G>A, NR_146807.1:n.768G>T, NR_146807.1:n.768G>A, NR_146808.2:n.768G>T, NR_146808.2:n.768G>A, NR_146808.1:n.768G>T, NR_146808.1:n.768G>A, NM_001350602.2:c.549G>T, NM_001350602.2:c.549G>A, NM_001350602.1:c.549G>T, NM_001350602.1:c.549G>A, NM_001350604.2:c.84G>T, NM_001350604.2:c.84G>A, NM_001350604.1:c.84G>T, NM_001350604.1:c.84G>A, NR_146809.2:n.768G>T, NR_146809.2:n.768G>A, NR_146809.1:n.768G>T, NR_146809.1:n.768G>A, NM_001304437.2:c.549G>T, NM_001304437.2:c.549G>A, NM_001304437.1:c.549G>T, NM_001304437.1:c.549G>A, NM_001350603.2:c.84G>T, NM_001350603.2:c.84G>A, NM_001350603.1:c.84G>T, NM_001350603.1:c.84G>A, XM_047419504.1:c.645G>T, XM_047419504.1:c.645G>A, NM_001410933.1:c.645G>T, NM_001410933.1:c.645G>A, XM_047419505.1:c.84G>T, XM_047419505.1:c.84G>A, XM_047419506.1:c.645G>T, XM_047419506.1:c.645G>A, XR_007059385.1:n.768G>T, XR_007059385.1:n.768G>A, XP_011534540.1:p.Met215Ile, XP_011534540.1:p.Met215Ile, XP_011534543.1:p.Met215Ile, XP_011534543.1:p.Met215Ile, XP_011534542.1:p.Met215Ile, XP_011534542.1:p.Met215Ile, XP_016866948.1:p.Met215Ile, XP_016866948.1:p.Met215Ile, NP_944602.1:p.Met215Ile, NP_944602.1:p.Met215Ile, XP_016866947.1:p.Met215Ile, XP_016866947.1:p.Met215Ile, NP_001337531.1:p.Met183Ile, NP_001337531.1:p.Met183Ile, NP_001337533.1:p.Met28Ile, NP_001337533.1:p.Met28Ile, NP_001291366.1:p.Met183Ile, NP_001291366.1:p.Met183Ile, NP_001337532.1:p.Met28Ile, NP_001337532.1:p.Met28Ile, XP_047275460.1:p.Met215Ile, XP_047275460.1:p.Met215Ile, XP_047275461.1:p.Met28Ile, XP_047275461.1:p.Met28Ile, XP_047275462.1:p.Met215Ile, XP_047275462.1:p.Met215Ile

Select item 145440558418.

rs1454405584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:83022548 (GRCh38)
6:83732267 (GRCh37)
Canonical SPDI:: NC_000006.12:83022547:G:A
Gene:: UBE3D (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000006.12:g.83022548G>A, NC_000006.11:g.83732267G>A, XM_011536238.4:c.751C>T, XM_011536238.3:c.751C>T, XM_011536238.2:c.751C>T, XM_011536238.1:c.751C>T, XM_011536241.4:c.751C>T, XM_011536241.3:c.751C>T, XM_011536241.2:c.751C>T, XM_011536241.1:c.751C>T, XM_011536240.3:c.751C>T, XM_011536240.2:c.751C>T, XM_011536240.1:c.751C>T, XM_017011459.3:c.751C>T, XM_017011459.2:c.751C>T, XM_017011459.1:c.751C>T, NM_198920.3:c.751C>T, NM_198920.2:c.751C>T, NM_198920.1:c.751C>T, XM_017011458.3:c.751C>T, XM_017011458.2:c.751C>T, XM_017011458.1:c.751C>T, NR_146807.2:n.996C>T, NR_146807.1:n.996C>T, NR_146808.2:n.996C>T, NR_146808.1:n.996C>T, NM_001350602.2:c.655C>T, NM_001350602.1:c.655C>T, NM_001350604.2:c.190C>T, NM_001350604.1:c.190C>T, NR_146809.2:n.874C>T, NR_146809.1:n.874C>T, NM_001304437.2:c.655C>T, NM_001304437.1:c.655C>T, NM_001350603.2:c.190C>T, NM_001350603.1:c.190C>T, XM_047419504.1:c.751C>T, NM_001410933.1:c.751C>T, XM_047419505.1:c.190C>T, XP_011534540.1:p.Gln251Ter, XP_011534543.1:p.Gln251Ter, XP_011534542.1:p.Gln251Ter, XP_016866948.1:p.Gln251Ter, NP_944602.1:p.Gln251Ter, XP_016866947.1:p.Gln251Ter, NP_001337531.1:p.Gln219Ter, NP_001337533.1:p.Gln64Ter, NP_001291366.1:p.Gln219Ter, NP_001337532.1:p.Gln64Ter, XP_047275460.1:p.Gln251Ter, XP_047275461.1:p.Gln64Ter

Select item 145182964719.

rs1451829647 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:82893022 (GRCh38)
6:83602741 (GRCh37)
Canonical SPDI:: NC_000006.12:82893021:T:G
Gene:: UBE3D (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,stop_lost,intron_variant,missense_variant,genic_downstream_transcript_variant,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.82893022T>G, NC_000006.11:g.83602741T>G, XM_011536238.4:c.1288A>C, XM_011536238.3:c.1288A>C, XM_011536238.2:c.1288A>C, XM_011536238.1:c.1288A>C, NM_198920.3:c.1170A>C, NM_198920.2:c.1170A>C, NM_198920.1:c.1170A>C, NR_146807.2:n.2454A>C, NR_146807.1:n.2454A>C, NR_146808.2:n.1389A>C, NR_146808.1:n.1389A>C, NM_001350602.2:c.1074A>C, NM_001350602.1:c.1074A>C, NM_001350604.2:c.609A>C, NM_001350604.1:c.609A>C, NR_146809.2:n.1267A>C, NR_146809.1:n.1267A>C, NM_001304437.2:c.1074A>C, NM_001304437.1:c.1074A>C, NM_001350603.2:c.609A>C, NM_001350603.1:c.609A>C, XM_047419505.1:c.727A>C, XP_011534540.1:p.Thr430Pro, NP_944602.1:p.Ter390Tyr, NP_001337531.1:p.Ter358Tyr, NP_001337533.1:p.Ter203Tyr, NP_001291366.1:p.Ter358Tyr, NP_001337532.1:p.Ter203Tyr, XP_047275461.1:p.Thr243Pro

Select item 144802155820.

rs1448021558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:83057902 (GRCh38)
6:83767621 (GRCh37)
Canonical SPDI:: NC_000006.12:83057901:G:A
Gene:: UBE3D (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000006.12:g.83057902G>A, NC_000006.11:g.83767621G>A, XM_011536238.4:c.198C>T, XM_011536238.3:c.198C>T, XM_011536238.2:c.198C>T, XM_011536238.1:c.198C>T, XM_011536241.4:c.198C>T, XM_011536241.3:c.198C>T, XM_011536241.2:c.198C>T, XM_011536241.1:c.198C>T, XM_011536240.3:c.198C>T, XM_011536240.2:c.198C>T, XM_011536240.1:c.198C>T, XM_017011459.3:c.198C>T, XM_017011459.2:c.198C>T, XM_017011459.1:c.198C>T, NM_198920.3:c.198C>T, NM_198920.2:c.198C>T, NM_198920.1:c.198C>T, XM_017011458.3:c.198C>T, XM_017011458.2:c.198C>T, XM_017011458.1:c.198C>T, NR_146807.2:n.321C>T, NR_146807.1:n.321C>T, NR_146808.2:n.321C>T, NR_146808.1:n.321C>T, NM_001350602.2:c.102C>T, NM_001350602.1:c.102C>T, NM_001350604.2:c.-428C>T, NM_001350604.1:c.-428C>T, NR_146809.2:n.321C>T, NR_146809.1:n.321C>T, NM_001304437.2:c.102C>T, NM_001304437.1:c.102C>T, NM_001350603.2:c.-273C>T, NM_001350603.1:c.-273C>T, XM_047419504.1:c.198C>T, NM_001410933.1:c.198C>T, XM_047419506.1:c.198C>T, XR_007059385.1:n.321C>T

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