Linked Data
dbSNP Id:
rs189276276
gnomAD v2:
9-131302495-G-A
gnomAD v3:
9-128540216-G-A
gnomAD v4:
9-128540216-G-A
COSMIC:
COSN7557296
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128540216G>A , CM000671.2:g.128540216G>A | GRCh38 |
| NC_000009.11:g.131302495G>A , CM000671.1:g.131302495G>A | GRCh37 |
| NC_000009.10:g.130342316G>A | NCBI36 |
| NG_012073.1:g.40525G>A , LRG_484:g.40525G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683044.1:c.*1036-59G>A | ENSP00000507095.1:n.*1036-59G>A | |
| ENST00000683288.1:c.*1964-59G>A | ENSP00000507477.1:n.*1964-59G>A | |
| ENST00000683748.1:c.1992-59G>A | ENSP00000507377.1:n.1992-59G>A | |
| ENST00000683905.1:c.*641-59G>A | ENSP00000506960.1:n.*641-59G>A | |
| ENST00000684139.1:c.1500-59G>A | ENSP00000507295.1:n.1500-59G>A | |
| ENST00000684210.1:n.1678-59G>A | ||
| ENST00000684314.1:c.1860-59G>A | ENSP00000507700.1:n.1860-59G>A | |
| ENST00000684331.1:c.1965-59G>A | ENSP00000507431.1:n.1965-59G>A | |
| ENST00000684463.1:n.603-59G>A | ||
| ENST00000684646.1:c.1752-59G>A | ENSP00000507723.1:n.1752-59G>A | |
| ENST00000309971.9:c.1965-59G>A MANE Select | ENSP00000308622.5:n.1965-59G>A | |
| ENST00000309971.8:c.1965-59G>A | ENSP00000308622.4:n.1965-59G>A | |
| NM_001003722.1:c.1965-59G>A , LRG_484t1:c.1965-59G>A | NP_001003722.1:n.1965-59G>A | |
| XM_006717059.2:c.2001-59G>A | XP_006717122.1:n.2001-59G>A | |
| XM_006717060.2:c.1974-59G>A | XP_006717123.1:n.1974-59G>A | |
| XM_011518549.1:c.2001-59G>A | XP_011516851.1:n.2001-59G>A | |
| XM_011518550.1:c.2001-59G>A | XP_011516852.1:n.2001-59G>A | |
| XM_011518551.1:c.1992-59G>A | XP_011516853.1:n.1992-59G>A | |
| XM_011518552.1:c.1242-59G>A | XP_011516854.1:n.1242-59G>A | |
| XR_242681.3:n.100+3163C>T | ||
| XR_428600.2:n.124+754C>T | ||
| XM_006717059.3:c.2001-59G>A | XP_006717122.1:n.2001-59G>A | |
| XM_006717060.3:c.1974-59G>A | XP_006717123.1:n.1974-59G>A | |
| XM_011518551.2:c.1992-59G>A | XP_011516853.1:n.1992-59G>A | |
| XM_024447519.1:c.1974-59G>A | XP_024303287.1:n.1974-59G>A | |
| XR_428600.3:n.126+754C>T | ||
| NM_001003722.2:c.1965-59G>A MANE Select | NP_001003722.1:n.1965-59G>A |