SNP Links for Protein (Select 117938264) - SNP

Links from Protein

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Select item 14873762931.

rs1487376293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:49847934 (GRCh38)
17:47925296 (GRCh37)
Canonical SPDI:: NC_000017.11:49847933:G:C
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49847934G>C, NC_000017.10:g.47925296G>C, NG_029377.1:g.5084C>G, NM_170685.3:c.84C>G, NM_170685.2:c.84C>G, NM_001077506.2:c.84C>G, NM_001077506.1:c.84C>G, NM_001077503.2:c.84C>G, NM_001077503.1:c.84C>G, NM_001077504.2:c.84C>G, NM_001077504.1:c.84C>G, NM_001077505.2:c.84C>G, NM_001077505.1:c.84C>G, NM_001242791.1:c.*647G>C

Select item 14872636042.

rs1487263604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49847986 (GRCh38)
17:47925348 (GRCh37)
Canonical SPDI:: NC_000017.11:49847985:A:G
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49847986A>G, NC_000017.10:g.47925348A>G, NG_029377.1:g.5032T>C, NM_170685.3:c.32T>C, NM_170685.2:c.32T>C, NM_001077506.2:c.32T>C, NM_001077506.1:c.32T>C, NM_001077503.2:c.32T>C, NM_001077503.1:c.32T>C, NM_001077504.2:c.32T>C, NM_001077504.1:c.32T>C, NM_001077505.2:c.32T>C, NM_001077505.1:c.32T>C, NM_001242791.1:c.*699A>G, NP_733786.2:p.Met11Thr, NP_001070974.1:p.Met11Thr, NP_001070971.1:p.Met11Thr, NP_001070972.1:p.Met11Thr, NP_001070973.1:p.Met11Thr

Select item 14827774583.

rs1482777458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49847923 (GRCh38)
17:47925285 (GRCh37)
Canonical SPDI:: NC_000017.11:49847922:G:A
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.49847923G>A, NC_000017.10:g.47925285G>A, NG_029377.1:g.5095C>T, NM_170685.3:c.95C>T, NM_170685.2:c.95C>T, NM_001077506.2:c.95C>T, NM_001077506.1:c.95C>T, NM_001077503.2:c.95C>T, NM_001077503.1:c.95C>T, NM_001077504.2:c.95C>T, NM_001077504.1:c.95C>T, NM_001077505.2:c.95C>T, NM_001077505.1:c.95C>T, NM_001242791.1:c.*636G>A, NP_733786.2:p.Ala32Val, NP_001070974.1:p.Ala32Val, NP_001070971.1:p.Ala32Val, NP_001070972.1:p.Ala32Val, NP_001070973.1:p.Ala32Val

Select item 14767957554.

rs1476795755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49844122 (GRCh38)
17:47921484 (GRCh37)
Canonical SPDI:: NC_000017.11:49844121:C:T
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49844122C>T, NC_000017.10:g.47921484C>T, NG_029377.1:g.8896G>A, NM_170685.3:c.159G>A, NM_170685.2:c.159G>A, NM_001077506.2:c.141G>A, NM_001077506.1:c.141G>A, NM_001077503.2:c.141G>A, NM_001077503.1:c.141G>A, NM_001077504.2:c.141G>A, NM_001077504.1:c.141G>A, NM_001077505.2:c.141G>A, NM_001077505.1:c.141G>A

Select item 14719714575.

rs1471971457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49848006 (GRCh38)
17:47925368 (GRCh37)
Canonical SPDI:: NC_000017.11:49848005:G:A
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49848006G>A, NC_000017.10:g.47925368G>A, NG_029377.1:g.5012C>T, NM_170685.3:c.12C>T, NM_170685.2:c.12C>T, NM_001077506.2:c.12C>T, NM_001077506.1:c.12C>T, NM_001077503.2:c.12C>T, NM_001077503.1:c.12C>T, NM_001077504.2:c.12C>T, NM_001077504.1:c.12C>T, NM_001077505.2:c.12C>T, NM_001077505.1:c.12C>T, NM_001242791.1:c.*719G>A

Select item 14660926786.

rs1466092678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:49841576 (GRCh38)
17:47918938 (GRCh37)
Canonical SPDI:: NC_000017.11:49841575:G:T
Gene:: TAC4 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49841576G>T, NC_000017.10:g.47918938G>T, NG_029377.1:g.11442C>A, NM_170685.3:c.226C>A, NM_170685.2:c.226C>A, NM_001077506.2:c.208C>A, NM_001077506.1:c.208C>A, NM_001077504.2:c.208C>A, NM_001077504.1:c.208C>A, NP_733786.2:p.Leu76Met, NP_001070974.1:p.Leu70Met, NP_001070972.1:p.Leu70Met

Select item 14605762827.

rs1460576282 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:49844085 (GRCh38)
17:47921447 (GRCh37)
Canonical SPDI:: NC_000017.11:49844084:G:A,NC_000017.11:49844084:G:T
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000017.11:g.49844085G>A, NC_000017.11:g.49844085G>T, NC_000017.10:g.47921447G>A, NC_000017.10:g.47921447G>T, NG_029377.1:g.8933C>T, NG_029377.1:g.8933C>A, NM_170685.3:c.196C>T, NM_170685.3:c.196C>A, NM_170685.2:c.196C>T, NM_170685.2:c.196C>A, NM_001077506.2:c.178C>T, NM_001077506.2:c.178C>A, NM_001077506.1:c.178C>T, NM_001077506.1:c.178C>A, NM_001077503.2:c.178C>T, NM_001077503.2:c.178C>A, NM_001077503.1:c.178C>T, NM_001077503.1:c.178C>A, NM_001077504.2:c.178C>T, NM_001077504.2:c.178C>A, NM_001077504.1:c.178C>T, NM_001077504.1:c.178C>A, NM_001077505.2:c.178C>T, NM_001077505.2:c.178C>A, NM_001077505.1:c.178C>T, NM_001077505.1:c.178C>A, NP_733786.2:p.Leu66Met, NP_001070974.1:p.Leu60Met, NP_001070971.1:p.Leu60Met, NP_001070972.1:p.Leu60Met, NP_001070973.1:p.Leu60Met

Select item 14564103208.

rs1456410320 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:49844099 (GRCh38)
17:47921462 (GRCh37)
Canonical SPDI:: NC_000017.11:49844099:TT:TTT
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.49844101dup, NC_000017.10:g.47921463dup, NG_029377.1:g.8918dup, NM_170685.3:c.181dup, NM_170685.2:c.181dup, NM_001077506.2:c.163dup, NM_001077506.1:c.163dup, NM_001077503.2:c.163dup, NM_001077503.1:c.163dup, NM_001077504.2:c.163dup, NM_001077504.1:c.163dup, NM_001077505.2:c.163dup, NM_001077505.1:c.163dup, NP_733786.2:p.Ser61fs, NP_001070974.1:p.Ser55fs, NP_001070971.1:p.Ser55fs, NP_001070972.1:p.Ser55fs, NP_001070973.1:p.Ser55fs

Select item 14548990119.

rs1454899011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49839909 (GRCh38)
17:47917271 (GRCh37)
Canonical SPDI:: NC_000017.11:49839908:G:A
Gene:: TAC4 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49839909G>A, NC_000017.10:g.47917271G>A, NG_029377.1:g.13109C>T, NM_170685.3:c.251C>T, NM_170685.2:c.251C>T, NM_001077506.2:c.233C>T, NM_001077506.1:c.233C>T, NM_001077503.2:c.200C>T, NM_001077503.1:c.200C>T, NP_733786.2:p.Ala84Val, NP_001070974.1:p.Ala78Val, NP_001070971.1:p.Ala67Val

Select item 145478192310.

rs1454781923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:49844092 (GRCh38)
17:47921454 (GRCh37)
Canonical SPDI:: NC_000017.11:49844091:G:T
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49844092G>T, NC_000017.10:g.47921454G>T, NG_029377.1:g.8926C>A, NM_170685.3:c.189C>A, NM_170685.2:c.189C>A, NM_001077506.2:c.171C>A, NM_001077506.1:c.171C>A, NM_001077503.2:c.171C>A, NM_001077503.1:c.171C>A, NM_001077504.2:c.171C>A, NM_001077504.1:c.171C>A, NM_001077505.2:c.171C>A, NM_001077505.1:c.171C>A, NP_733786.2:p.Phe63Leu, NP_001070974.1:p.Phe57Leu, NP_001070971.1:p.Phe57Leu, NP_001070972.1:p.Phe57Leu, NP_001070973.1:p.Phe57Leu

Select item 145002071311.

rs1450020713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49839872 (GRCh38)
17:47917234 (GRCh37)
Canonical SPDI:: NC_000017.11:49839871:G:A
Gene:: TAC4 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49839872G>A, NC_000017.10:g.47917234G>A, NG_029377.1:g.13146C>T, NM_170685.3:c.288C>T, NM_170685.2:c.288C>T, NM_001077506.2:c.270C>T, NM_001077506.1:c.270C>T, NM_001077503.2:c.237C>T, NM_001077503.1:c.237C>T

Select item 144828750012.

rs1448287500 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:49839907 (GRCh38)
17:47917269 (GRCh37)
Canonical SPDI:: NC_000017.11:49839906:A:C,NC_000017.11:49839906:A:G
Gene:: TAC4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.49839907A>C, NC_000017.11:g.49839907A>G, NC_000017.10:g.47917269A>C, NC_000017.10:g.47917269A>G, NG_029377.1:g.13111T>G, NG_029377.1:g.13111T>C, NM_170685.3:c.253T>G, NM_170685.3:c.253T>C, NM_170685.2:c.253T>G, NM_170685.2:c.253T>C, NM_001077506.2:c.235T>G, NM_001077506.2:c.235T>C, NM_001077506.1:c.235T>G, NM_001077506.1:c.235T>C, NM_001077503.2:c.202T>G, NM_001077503.2:c.202T>C, NM_001077503.1:c.202T>G, NM_001077503.1:c.202T>C, NP_733786.2:p.Tyr85Asp, NP_733786.2:p.Tyr85His, NP_001070974.1:p.Tyr79Asp, NP_001070974.1:p.Tyr79His, NP_001070971.1:p.Tyr68Asp, NP_001070971.1:p.Tyr68His

Select item 144235724713.

rs1442357247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49838652 (GRCh38)
17:47916014 (GRCh37)
Canonical SPDI:: NC_000017.11:49838651:C:T
Gene:: TAC4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49838652C>T, NC_000017.10:g.47916014C>T, NG_029377.1:g.14366G>A, NM_170685.3:c.332G>A, NM_170685.2:c.332G>A, NM_001077506.2:c.314G>A, NM_001077506.1:c.314G>A, NM_001077503.2:c.281G>A, NM_001077503.1:c.281G>A, NM_001077504.2:c.254G>A, NM_001077504.1:c.254G>A, NM_001077505.2:c.221G>A, NM_001077505.1:c.221G>A, NP_733786.2:p.Gly111Asp, NP_001070974.1:p.Gly105Asp, NP_001070971.1:p.Gly94Asp, NP_001070972.1:p.Gly85Asp, NP_001070973.1:p.Gly74Asp

Select item 143685411014.

rs1436854110 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49844091 (GRCh38)
17:47921453 (GRCh37)
Canonical SPDI:: NC_000017.11:49844090:A:G
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49844091A>G, NC_000017.10:g.47921453A>G, NG_029377.1:g.8927T>C, NM_170685.3:c.190T>C, NM_170685.2:c.190T>C, NM_001077506.2:c.172T>C, NM_001077506.1:c.172T>C, NM_001077503.2:c.172T>C, NM_001077503.1:c.172T>C, NM_001077504.2:c.172T>C, NM_001077504.1:c.172T>C, NM_001077505.2:c.172T>C, NM_001077505.1:c.172T>C, NP_733786.2:p.Phe64Leu, NP_001070974.1:p.Phe58Leu, NP_001070971.1:p.Phe58Leu, NP_001070972.1:p.Phe58Leu, NP_001070973.1:p.Phe58Leu

Select item 143259246115.

rs1432592461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49839888 (GRCh38)
17:47917250 (GRCh37)
Canonical SPDI:: NC_000017.11:49839887:A:G
Gene:: TAC4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49839888A>G, NC_000017.10:g.47917250A>G, NG_029377.1:g.13130T>C, NM_170685.3:c.272T>C, NM_170685.2:c.272T>C, NM_001077506.2:c.254T>C, NM_001077506.1:c.254T>C, NM_001077503.2:c.221T>C, NM_001077503.1:c.221T>C, NP_733786.2:p.Phe91Ser, NP_001070974.1:p.Phe85Ser, NP_001070971.1:p.Phe74Ser

Select item 143009361316.

rs1430093613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49844131 (GRCh38)
17:47921493 (GRCh37)
Canonical SPDI:: NC_000017.11:49844130:G:A
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49844131G>A, NC_000017.10:g.47921493G>A, NG_029377.1:g.8887C>T, NM_170685.3:c.150C>T, NM_170685.2:c.150C>T, NM_001077506.2:c.132C>T, NM_001077506.1:c.132C>T, NM_001077503.2:c.132C>T, NM_001077503.1:c.132C>T, NM_001077504.2:c.132C>T, NM_001077504.1:c.132C>T, NM_001077505.2:c.132C>T, NM_001077505.1:c.132C>T

Select item 142622608417.

rs1426226084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49847945 (GRCh38)
17:47925307 (GRCh37)
Canonical SPDI:: NC_000017.11:49847944:C:T
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49847945C>T, NC_000017.10:g.47925307C>T, NG_029377.1:g.5073G>A, NM_170685.3:c.73G>A, NM_170685.2:c.73G>A, NM_001077506.2:c.73G>A, NM_001077506.1:c.73G>A, NM_001077503.2:c.73G>A, NM_001077503.1:c.73G>A, NM_001077504.2:c.73G>A, NM_001077504.1:c.73G>A, NM_001077505.2:c.73G>A, NM_001077505.1:c.73G>A, NM_001242791.1:c.*658C>T, NP_733786.2:p.Glu25Lys, NP_001070974.1:p.Glu25Lys, NP_001070971.1:p.Glu25Lys, NP_001070972.1:p.Glu25Lys, NP_001070973.1:p.Glu25Lys

Select item 142065099618.

rs1420650996 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49847954 (GRCh38)
17:47925316 (GRCh37)
Canonical SPDI:: NC_000017.11:49847953:C:T
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49847954C>T, NC_000017.10:g.47925316C>T, NG_029377.1:g.5064G>A, NM_170685.3:c.64G>A, NM_170685.2:c.64G>A, NM_001077506.2:c.64G>A, NM_001077506.1:c.64G>A, NM_001077503.2:c.64G>A, NM_001077503.1:c.64G>A, NM_001077504.2:c.64G>A, NM_001077504.1:c.64G>A, NM_001077505.2:c.64G>A, NM_001077505.1:c.64G>A, NM_001242791.1:c.*667C>T, NP_733786.2:p.Gly22Ser, NP_001070974.1:p.Gly22Ser, NP_001070971.1:p.Gly22Ser, NP_001070972.1:p.Gly22Ser, NP_001070973.1:p.Gly22Ser

Select item 139765898619.

rs1397658986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:49847961 (GRCh38)
17:47925323 (GRCh37)
Canonical SPDI:: NC_000017.11:49847960:T:A,NC_000017.11:49847960:T:C
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49847961T>A, NC_000017.11:g.49847961T>C, NC_000017.10:g.47925323T>A, NC_000017.10:g.47925323T>C, NG_029377.1:g.5057A>T, NG_029377.1:g.5057A>G, NM_170685.3:c.57A>T, NM_170685.3:c.57A>G, NM_170685.2:c.57A>T, NM_170685.2:c.57A>G, NM_001077506.2:c.57A>T, NM_001077506.2:c.57A>G, NM_001077506.1:c.57A>T, NM_001077506.1:c.57A>G, NM_001077503.2:c.57A>T, NM_001077503.2:c.57A>G, NM_001077503.1:c.57A>T, NM_001077503.1:c.57A>G, NM_001077504.2:c.57A>T, NM_001077504.2:c.57A>G, NM_001077504.1:c.57A>T, NM_001077504.1:c.57A>G, NM_001077505.2:c.57A>T, NM_001077505.2:c.57A>G, NM_001077505.1:c.57A>T, NM_001077505.1:c.57A>G, NM_001242791.1:c.*674T>A, NM_001242791.1:c.*674T>C

Select item 139238115320.

rs1392381153 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49844112 (GRCh38)
17:47921474 (GRCh37)
Canonical SPDI:: NC_000017.11:49844111:T:C
Gene:: TAC4 (Varview), FLJ45513 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49844112T>C, NC_000017.10:g.47921474T>C, NG_029377.1:g.8906A>G, NM_170685.3:c.169A>G, NM_170685.2:c.169A>G, NM_001077506.2:c.151A>G, NM_001077506.1:c.151A>G, NM_001077503.2:c.151A>G, NM_001077503.1:c.151A>G, NM_001077504.2:c.151A>G, NM_001077504.1:c.151A>G, NM_001077505.2:c.151A>G, NM_001077505.1:c.151A>G, NP_733786.2:p.Thr57Ala, NP_001070974.1:p.Thr51Ala, NP_001070971.1:p.Thr51Ala, NP_001070972.1:p.Thr51Ala, NP_001070973.1:p.Thr51Ala

dbSNP

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