Linked Data
ClinVar Variation Id:
1149987
ClinVar RCV Id:
RCV001490395
dbSNP Id:
rs137977468
ExAC:
9:117166326 G / A
gnomAD v2:
9-117166326-G-A
gnomAD v3:
9-114404046-G-A
gnomAD v4:
9-114404046-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114404046G>A , CM000671.2:g.114404046G>A | GRCh38 |
| NC_000009.11:g.117166326G>A , CM000671.1:g.117166326G>A | GRCh37 |
| NC_000009.10:g.116206147G>A | NCBI36 |
| NG_016700.1:g.106411C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.612C>T | ENSP00000514396.1:p.Ser204= | |
| ENST00000362057.4:c.2268C>T MANE Select | ENSP00000354623.3:p.Ser756= | |
| ENST00000674036.8:c.1241C>T | ||
| ENST00000674048.1:n.2149C>T | ||
| ENST00000265134.10:c.1119C>T | ENSP00000265134.6:p.Ser373= | |
| ENST00000362057.3:c.2268C>T | ENSP00000354623.3:p.Ser756= | |
| ENST00000374059.7:c.1215C>T | ENSP00000363172.3:p.Ser405= | |
| NM_001083885.2:c.1119C>T | NP_001077354.2:p.Ser373= | |
| NM_001173425.1:c.2265C>T | NP_001166896.1:p.Ser755= | |
| NM_015404.3:c.2268C>T | NP_056219.3:p.Ser756= | |
| XM_005251897.3:c.1605C>T | XP_005251954.2:p.Ser535= | |
| XM_011518484.1:c.2301C>T | XP_011516786.1:p.Ser767= | |
| XM_011518485.1:c.2301C>T | XP_011516787.1:p.Ser767= | |
| XM_011518486.1:c.2298C>T | XP_011516788.1:p.Ser766= | |
| XM_011518487.1:c.2175C>T | XP_011516789.1:p.Ser725= | |
| XM_011518488.1:c.2058C>T | XP_011516790.1:p.Ser686= | |
| XM_011518495.1:c.978C>T | XP_011516797.1:p.Ser326= | |
| XR_929747.1:n.3205C>T | ||
| XR_929748.1:n.3103C>T | ||
| NM_001346890.1:c.1215C>T | NP_001333819.1:p.Ser405= | |
| XM_011518486.2:c.2298C>T | XP_011516788.1:p.Ser766= | |
| XM_011518487.2:c.2175C>T | XP_011516789.1:p.Ser725= | |
| XM_011518488.2:c.2058C>T | XP_011516790.1:p.Ser686= | |
| XR_929747.2:n.2516C>T | ||
| XR_929748.2:n.2414C>T | ||
| NM_015404.4:c.2268C>T MANE Select | NP_056219.3:p.Ser756= | |
| NM_001173425.2:c.2265C>T | NP_001166896.1:p.Ser755= | |
| NM_001083885.3:c.1119C>T | NP_001077354.2:p.Ser373= |