SNP Links for Protein (Select 157694489) - SNP

Links from Protein

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Select item 14902708981.

rs1490270898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:117025621 (GRCh38)
1:117568243 (GRCh37)
Canonical SPDI:: NC_000001.11:117025620:T:A
Gene:: CD101 (Varview), CD101-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.117025621T>A, NC_000001.10:g.117568243T>A, NM_004258.6:c.2541T>A, NM_004258.5:c.2541T>A, NM_001256106.3:c.2541T>A, NM_001256106.2:c.2541T>A, NM_001256109.3:c.2541T>A, NM_001256109.2:c.2541T>A, NM_001256111.3:c.2355T>A, NM_001256111.2:c.2355T>A, XM_047434715.1:c.2586T>A, NR_110786.1:n.1675A>T

Select item 14895442342.

rs1489544234 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:117013676 (GRCh38)
1:117556298 (GRCh37)
Canonical SPDI:: NC_000001.11:117013675:A:T
Gene:: CD101 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.117013676A>T, NC_000001.10:g.117556298A>T, NM_004258.6:c.1112A>T, NM_004258.5:c.1112A>T, NM_001256106.3:c.1112A>T, NM_001256106.2:c.1112A>T, NM_001256109.3:c.1112A>T, NM_001256109.2:c.1112A>T, NM_001256111.3:c.926A>T, NM_001256111.2:c.926A>T, XM_047434715.1:c.1157A>T, XM_047434718.1:c.1157A>T, NP_004249.2:p.Asp371Val, NP_001243035.1:p.Asp371Val, NP_001243038.1:p.Asp371Val, NP_001243040.1:p.Asp309Val, XP_047290671.1:p.Asp386Val, XP_047290674.1:p.Asp386Val

Select item 14887707153.

rs1488770715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:117010006 (GRCh38)
1:117552628 (GRCh37)
Canonical SPDI:: NC_000001.11:117010005:C:G
Gene:: CD101 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.117010006C>G, NC_000001.10:g.117552628C>G, NM_004258.6:c.200C>G, NM_004258.5:c.200C>G, NM_001256106.3:c.200C>G, NM_001256106.2:c.200C>G, NM_001256109.3:c.200C>G, NM_001256109.2:c.200C>G, NM_001256111.3:c.200C>G, NM_001256111.2:c.200C>G, XM_047434715.1:c.245C>G, XM_047434718.1:c.245C>G, NP_004249.2:p.Thr67Ser, NP_001243035.1:p.Thr67Ser, NP_001243038.1:p.Thr67Ser, NP_001243040.1:p.Thr67Ser, XP_047290671.1:p.Thr82Ser, XP_047290674.1:p.Thr82Ser

Select item 14885496364.

rs1488549636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:117009934 (GRCh38)
1:117552556 (GRCh37)
Canonical SPDI:: NC_000001.11:117009933:G:A
Gene:: CD101 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.117009934G>A, NC_000001.10:g.117552556G>A, NM_004258.6:c.128G>A, NM_004258.5:c.128G>A, NM_001256106.3:c.128G>A, NM_001256106.2:c.128G>A, NM_001256109.3:c.128G>A, NM_001256109.2:c.128G>A, NM_001256111.3:c.128G>A, NM_001256111.2:c.128G>A, XM_047434715.1:c.173G>A, XM_047434718.1:c.173G>A, NP_004249.2:p.Cys43Tyr, NP_001243035.1:p.Cys43Tyr, NP_001243038.1:p.Cys43Tyr, NP_001243040.1:p.Cys43Tyr, XP_047290671.1:p.Cys58Tyr, XP_047290674.1:p.Cys58Tyr

Select item 14884148075.

rs1488414807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:117011693 (GRCh38)
1:117554315 (GRCh37)
Canonical SPDI:: NC_000001.11:117011692:G:A
Gene:: CD101 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.117011693G>A, NC_000001.10:g.117554315G>A, NM_004258.6:c.568G>A, NM_004258.5:c.568G>A, NM_001256106.3:c.568G>A, NM_001256106.2:c.568G>A, NM_001256109.3:c.568G>A, NM_001256109.2:c.568G>A, XM_047434715.1:c.613G>A, XM_047434718.1:c.613G>A, NP_004249.2:p.Gly190Arg, NP_001243035.1:p.Gly190Arg, NP_001243038.1:p.Gly190Arg, XP_047290671.1:p.Gly205Arg, XP_047290674.1:p.Gly205Arg

Select item 14877431736.

rs1487743173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:117011602 (GRCh38)
1:117554224 (GRCh37)
Canonical SPDI:: NC_000001.11:117011601:G:C
Gene:: CD101 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.117011602G>C, NC_000001.10:g.117554224G>C, NM_004258.6:c.477G>C, NM_004258.5:c.477G>C, NM_001256106.3:c.477G>C, NM_001256106.2:c.477G>C, NM_001256109.3:c.477G>C, NM_001256109.2:c.477G>C, XM_047434715.1:c.522G>C, XM_047434718.1:c.522G>C, NP_004249.2:p.Glu159Asp, NP_001243035.1:p.Glu159Asp, NP_001243038.1:p.Glu159Asp, XP_047290671.1:p.Glu174Asp, XP_047290674.1:p.Glu174Asp

Select item 14870220597.

rs1487022059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:117017272 (GRCh38)
1:117559894 (GRCh37)
Canonical SPDI:: NC_000001.11:117017271:C:T
Gene:: CD101 (Varview)
Functional Consequence:: synonymous_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_000001.11:g.117017272C>T, NC_000001.10:g.117559894C>T, NM_004258.6:c.1411C>T, NM_004258.5:c.1411C>T, NM_001256106.3:c.1411C>T, NM_001256106.2:c.1411C>T, NM_001256109.3:c.1411C>T, NM_001256109.2:c.1411C>T, NM_001256111.3:c.1225C>T, NM_001256111.2:c.1225C>T, XM_047434715.1:c.1456C>T, XM_047434718.1:c.1456C>T

Select item 14867147038.

rs1486714703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:117009909 (GRCh38)
1:117552531 (GRCh37)
Canonical SPDI:: NC_000001.11:117009908:G:A
Gene:: CD101 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.117009909G>A, NC_000001.10:g.117552531G>A, NM_004258.6:c.103G>A, NM_004258.5:c.103G>A, NM_001256106.3:c.103G>A, NM_001256106.2:c.103G>A, NM_001256109.3:c.103G>A, NM_001256109.2:c.103G>A, NM_001256111.3:c.103G>A, NM_001256111.2:c.103G>A, XM_047434715.1:c.148G>A, XM_047434718.1:c.148G>A, NP_004249.2:p.Glu35Lys, NP_001243035.1:p.Glu35Lys, NP_001243038.1:p.Glu35Lys, NP_001243040.1:p.Glu35Lys, XP_047290671.1:p.Glu50Lys, XP_047290674.1:p.Glu50Lys

Select item 14838599349.

rs1483859934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:117021784 (GRCh38)
1:117564406 (GRCh37)
Canonical SPDI:: NC_000001.11:117021783:C:A,NC_000001.11:117021783:C:T
Gene:: CD101 (Varview), LOC124904386 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.117021784C>A, NC_000001.11:g.117021784C>T, NC_000001.10:g.117564406C>A, NC_000001.10:g.117564406C>T, NM_004258.6:c.2229C>A, NM_004258.6:c.2229C>T, NM_004258.5:c.2229C>A, NM_004258.5:c.2229C>T, NM_001256106.3:c.2229C>A, NM_001256106.3:c.2229C>T, NM_001256106.2:c.2229C>A, NM_001256106.2:c.2229C>T, NM_001256109.3:c.2229C>A, NM_001256109.3:c.2229C>T, NM_001256109.2:c.2229C>A, NM_001256109.2:c.2229C>T, NM_001256111.3:c.2043C>A, NM_001256111.3:c.2043C>T, NM_001256111.2:c.2043C>A, NM_001256111.2:c.2043C>T, XM_047434715.1:c.2274C>A, XM_047434715.1:c.2274C>T, XR_007066499.1:n.218G>T, XR_007066499.1:n.218G>A, NP_004249.2:p.His743Gln, NP_001243035.1:p.His743Gln, NP_001243038.1:p.His743Gln, NP_001243040.1:p.His681Gln, XP_047290671.1:p.His758Gln

Select item 148337258910.

rs1483372589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:117021674 (GRCh38)
1:117564296 (GRCh37)
Canonical SPDI:: NC_000001.11:117021673:C:A
Gene:: CD101 (Varview), LOC124904386 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.117021674C>A, NC_000001.10:g.117564296C>A, NM_004258.6:c.2119C>A, NM_004258.5:c.2119C>A, NM_001256106.3:c.2119C>A, NM_001256106.2:c.2119C>A, NM_001256109.3:c.2119C>A, NM_001256109.2:c.2119C>A, NM_001256111.3:c.1933C>A, NM_001256111.2:c.1933C>A, XM_047434715.1:c.2164C>A, XR_007066499.1:n.328G>T, NP_004249.2:p.Leu707Ile, NP_001243035.1:p.Leu707Ile, NP_001243038.1:p.Leu707Ile, NP_001243040.1:p.Leu645Ile, XP_047290671.1:p.Leu722Ile

Select item 148241133111.

rs1482411331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:117011755 (GRCh38)
1:117554377 (GRCh37)
Canonical SPDI:: NC_000001.11:117011754:G:A
Gene:: CD101 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000001.11:g.117011755G>A, NC_000001.10:g.117554377G>A, NM_004258.6:c.630G>A, NM_004258.5:c.630G>A, NM_001256106.3:c.630G>A, NM_001256106.2:c.630G>A, NM_001256109.3:c.630G>A, NM_001256109.2:c.630G>A, NM_001256111.3:c.444G>A, NM_001256111.2:c.444G>A, XM_047434715.1:c.675G>A, XM_047434718.1:c.675G>A

Select item 148219290412.

rs1482192904 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:117011757 (GRCh38)
1:117554379 (GRCh37)
Canonical SPDI:: NC_000001.11:117011756:C:G
Gene:: CD101 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.117011757C>G, NC_000001.10:g.117554379C>G, NM_004258.6:c.632C>G, NM_004258.5:c.632C>G, NM_001256106.3:c.632C>G, NM_001256106.2:c.632C>G, NM_001256109.3:c.632C>G, NM_001256109.2:c.632C>G, NM_001256111.3:c.446C>G, NM_001256111.2:c.446C>G, XM_047434715.1:c.677C>G, XM_047434718.1:c.677C>G, NP_004249.2:p.Pro211Arg, NP_001243035.1:p.Pro211Arg, NP_001243038.1:p.Pro211Arg, NP_001243040.1:p.Pro149Arg, XP_047290671.1:p.Pro226Arg, XP_047290674.1:p.Pro226Arg

Select item 148054766613.

rs1480547666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:117010186 (GRCh38)
1:117552808 (GRCh37)
Canonical SPDI:: NC_000001.11:117010185:A:G,NC_000001.11:117010185:A:T
Gene:: CD101 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.117010186A>G, NC_000001.11:g.117010186A>T, NC_000001.10:g.117552808A>G, NC_000001.10:g.117552808A>T, NM_004258.6:c.380A>G, NM_004258.6:c.380A>T, NM_004258.5:c.380A>G, NM_004258.5:c.380A>T, NM_001256106.3:c.380A>G, NM_001256106.3:c.380A>T, NM_001256106.2:c.380A>G, NM_001256106.2:c.380A>T, NM_001256109.3:c.380A>G, NM_001256109.3:c.380A>T, NM_001256109.2:c.380A>G, NM_001256109.2:c.380A>T, NM_001256111.3:c.380A>G, NM_001256111.3:c.380A>T, NM_001256111.2:c.380A>G, NM_001256111.2:c.380A>T, XM_047434715.1:c.425A>G, XM_047434715.1:c.425A>T, XM_047434718.1:c.425A>G, XM_047434718.1:c.425A>T, NP_004249.2:p.Asp127Gly, NP_004249.2:p.Asp127Val, NP_001243035.1:p.Asp127Gly, NP_001243035.1:p.Asp127Val, NP_001243038.1:p.Asp127Gly, NP_001243038.1:p.Asp127Val, NP_001243040.1:p.Asp127Gly, NP_001243040.1:p.Asp127Val, XP_047290671.1:p.Asp142Gly, XP_047290671.1:p.Asp142Val, XP_047290674.1:p.Asp142Gly, XP_047290674.1:p.Asp142Val

Select item 147940725514.

rs1479407255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:117021811 (GRCh38)
1:117564433 (GRCh37)
Canonical SPDI:: NC_000001.11:117021810:T:C
Gene:: CD101 (Varview), LOC124904386 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.117021811T>C, NC_000001.10:g.117564433T>C, NM_004258.6:c.2256T>C, NM_004258.5:c.2256T>C, NM_001256106.3:c.2256T>C, NM_001256106.2:c.2256T>C, NM_001256109.3:c.2256T>C, NM_001256109.2:c.2256T>C, NM_001256111.3:c.2070T>C, NM_001256111.2:c.2070T>C, XM_047434715.1:c.2301T>C, XR_007066499.1:n.191A>G

Select item 147897447615.

rs1478974476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:117011924 (GRCh38)
1:117554546 (GRCh37)
Canonical SPDI:: NC_000001.11:117011923:A:G
Gene:: CD101 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.117011924A>G, NC_000001.10:g.117554546A>G, NM_004258.6:c.799A>G, NM_004258.5:c.799A>G, NM_001256106.3:c.799A>G, NM_001256106.2:c.799A>G, NM_001256109.3:c.799A>G, NM_001256109.2:c.799A>G, NM_001256111.3:c.613A>G, NM_001256111.2:c.613A>G, XM_047434715.1:c.844A>G, XM_047434718.1:c.844A>G, NP_004249.2:p.Lys267Glu, NP_001243035.1:p.Lys267Glu, NP_001243038.1:p.Lys267Glu, NP_001243040.1:p.Lys205Glu, XP_047290671.1:p.Lys282Glu, XP_047290674.1:p.Lys282Glu

Select item 147882210016.

rs1478822100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:117017162 (GRCh38)
1:117559784 (GRCh37)
Canonical SPDI:: NC_000001.11:117017161:G:A
Gene:: CD101 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.117017162G>A, NC_000001.10:g.117559784G>A, NM_004258.6:c.1301G>A, NM_004258.5:c.1301G>A, NM_001256106.3:c.1301G>A, NM_001256106.2:c.1301G>A, NM_001256109.3:c.1301G>A, NM_001256109.2:c.1301G>A, NM_001256111.3:c.1115G>A, NM_001256111.2:c.1115G>A, XM_047434715.1:c.1346G>A, XM_047434718.1:c.1346G>A, NP_004249.2:p.Cys434Tyr, NP_001243035.1:p.Cys434Tyr, NP_001243038.1:p.Cys434Tyr, NP_001243040.1:p.Cys372Tyr, XP_047290671.1:p.Cys449Tyr, XP_047290674.1:p.Cys449Tyr

Select item 147806025117.

rs1478060251 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:117018448 (GRCh38)
1:117561070 (GRCh37)
Canonical SPDI:: NC_000001.11:117018447:A:G
Gene:: CD101 (Varview), LOC124904386 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.117018448A>G, NC_000001.10:g.117561070A>G, NG_082165.1:g.917A>G, NM_004258.6:c.1905A>G, NM_004258.5:c.1905A>G, NM_001256106.3:c.1905A>G, NM_001256106.2:c.1905A>G, NM_001256109.3:c.1905A>G, NM_001256109.2:c.1905A>G, NM_001256111.3:c.1719A>G, NM_001256111.2:c.1719A>G, XM_047434715.1:c.1950A>G, XM_047434718.1:c.1950A>G

Select item 147733786818.

rs1477337868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:117013682 (GRCh38)
1:117556304 (GRCh37)
Canonical SPDI:: NC_000001.11:117013681:G:A
Gene:: CD101 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.117013682G>A, NC_000001.10:g.117556304G>A, NM_004258.6:c.1118G>A, NM_004258.5:c.1118G>A, NM_001256106.3:c.1118G>A, NM_001256106.2:c.1118G>A, NM_001256109.3:c.1118G>A, NM_001256109.2:c.1118G>A, NM_001256111.3:c.932G>A, NM_001256111.2:c.932G>A, XM_047434715.1:c.1163G>A, XM_047434718.1:c.1163G>A, NP_004249.2:p.Gly373Asp, NP_001243035.1:p.Gly373Asp, NP_001243038.1:p.Gly373Asp, NP_001243040.1:p.Gly311Asp, XP_047290671.1:p.Gly388Asp, XP_047290674.1:p.Gly388Asp

Select item 147682780819.

rs1476827808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:117011735 (GRCh38)
1:117554357 (GRCh37)
Canonical SPDI:: NC_000001.11:117011734:G:A
Gene:: CD101 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,splice_acceptor_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.117011735G>A, NC_000001.10:g.117554357G>A, NM_004258.6:c.610G>A, NM_004258.5:c.610G>A, NM_001256106.3:c.610G>A, NM_001256106.2:c.610G>A, NM_001256109.3:c.610G>A, NM_001256109.2:c.610G>A, XM_047434715.1:c.655G>A, XM_047434718.1:c.655G>A, NP_004249.2:p.Asp204Asn, NP_001243035.1:p.Asp204Asn, NP_001243038.1:p.Asp204Asn, XP_047290671.1:p.Asp219Asn, XP_047290674.1:p.Asp219Asn

Select item 147609638820.

rs1476096388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:117009980 (GRCh38)
1:117552602 (GRCh37)
Canonical SPDI:: NC_000001.11:117009979:G:A
Gene:: CD101 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.117009980G>A, NC_000001.10:g.117552602G>A, NM_004258.6:c.174G>A, NM_004258.5:c.174G>A, NM_001256106.3:c.174G>A, NM_001256106.2:c.174G>A, NM_001256109.3:c.174G>A, NM_001256109.2:c.174G>A, NM_001256111.3:c.174G>A, NM_001256111.2:c.174G>A, XM_047434715.1:c.219G>A, XM_047434718.1:c.219G>A, NP_004249.2:p.Trp58Ter, NP_001243035.1:p.Trp58Ter, NP_001243038.1:p.Trp58Ter, NP_001243040.1:p.Trp58Ter, XP_047290671.1:p.Trp73Ter, XP_047290674.1:p.Trp73Ter

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