Linked Data
ClinVar Variation Id:
2689
dbSNP Id:
rs137852839
ExAC:
9:117166262 G / A
gnomAD v2:
9-117166262-G-A
gnomAD v3:
9-114403982-G-A
gnomAD v4:
9-114403982-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114403982G>A , CM000671.2:g.114403982G>A | GRCh38 |
| NC_000009.11:g.117166262G>A , CM000671.1:g.117166262G>A | GRCh37 |
| NC_000009.10:g.116206083G>A | NCBI36 |
| NG_016700.1:g.106475C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.676C>T | ENSP00000514396.1:p.Arg226Ter | |
| ENST00000362057.4:c.2332C>T MANE Select | ENSP00000354623.3:p.Arg778Ter | |
| ENST00000674036.8:c.1305C>T | ||
| ENST00000674048.1:n.2213C>T | ||
| ENST00000265134.10:c.1183C>T | ENSP00000265134.6:p.Arg395Ter | |
| ENST00000362057.3:c.2332C>T | ENSP00000354623.3:p.Arg778Ter | |
| ENST00000374059.7:c.1279C>T | ENSP00000363172.3:p.Arg427Ter | |
| NM_001083885.2:c.1183C>T | NP_001077354.2:p.Arg395Ter | |
| NM_001173425.1:c.2329C>T | NP_001166896.1:p.Arg777Ter | |
| NM_015404.3:c.2332C>T | NP_056219.3:p.Arg778Ter | |
| XM_005251897.3:c.1669C>T | XP_005251954.2:p.Arg557Ter | |
| XM_011518484.1:c.2365C>T | XP_011516786.1:p.Arg789Ter | |
| XM_011518485.1:c.2365C>T | XP_011516787.1:p.Arg789Ter | |
| XM_011518486.1:c.2362C>T | XP_011516788.1:p.Arg788Ter | |
| XM_011518487.1:c.2239C>T | XP_011516789.1:p.Arg747Ter | |
| XM_011518488.1:c.2122C>T | XP_011516790.1:p.Arg708Ter | |
| XM_011518495.1:c.1042C>T | XP_011516797.1:p.Arg348Ter | |
| XR_929747.1:n.3269C>T | ||
| XR_929748.1:n.3167C>T | ||
| NM_001346890.1:c.1279C>T | NP_001333819.1:p.Arg427Ter | |
| XM_011518486.2:c.2362C>T | XP_011516788.1:p.Arg788Ter | |
| XM_011518487.2:c.2239C>T | XP_011516789.1:p.Arg747Ter | |
| XM_011518488.2:c.2122C>T | XP_011516790.1:p.Arg708Ter | |
| XR_929747.2:n.2580C>T | ||
| XR_929748.2:n.2478C>T | ||
| NM_015404.4:c.2332C>T MANE Select | NP_056219.3:p.Arg778Ter | |
| NM_001173425.2:c.2329C>T | NP_001166896.1:p.Arg777Ter | |
| NM_001083885.3:c.1183C>T | NP_001077354.2:p.Arg395Ter |