Linked Data
dbSNP Id:
rs376919169
ExAC:
7:74197944 C / G
gnomAD v3:
7-74783601-C-G
gnomAD v4:
7-74783601-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74783601C>G , CM000669.2:g.74783601C>G | GRCh38 |
| NC_000007.13:g.74197944C>G , CM000669.1:g.74197944C>G | GRCh37 |
| NC_000007.12:g.73835880C>G | NCBI36 |
| NG_009078.2:g.14638C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.11:c.651C>G MANE Select | ENSP00000289473.4:p.Asp217Glu | |
| ENST00000289473.10:c.651C>G | ENSP00000289473.4:p.Asp217Glu | |
| ENST00000289473.8:c.651C>G | ENSP00000289473.4:p.Asp217Glu | |
| ENST00000398421.6:n.1208C>G | ||
| ENST00000443956.7:n.772C>G | ||
| ENST00000455062.2:n.798C>G | ||
| ENST00000486097.1:n.159C>G | ||
| NM_000265.5:c.651C>G | NP_000256.4:p.Asp217Glu | |
| XM_005250543.3:c.651C>G | XP_005250600.2:p.Asp217Glu | |
| XM_005250544.3:c.651C>G | XP_005250601.2:p.Asp217Glu | |
| XM_011516498.1:c.651C>G | XP_011514800.1:p.Asp217Glu | |
| XM_011516499.1:c.651C>G | XP_011514801.1:p.Asp217Glu | |
| XM_011516500.1:c.651C>G | XP_011514802.1:p.Asp217Glu | |
| XM_011516501.1:c.258C>G | XP_011514803.1:p.Asp86Glu | |
| XR_242262.3:n.706C>G | ||
| XR_927515.1:n.706C>G | ||
| NM_000265.6:c.651C>G | NP_000256.4:p.Asp217Glu | |
| NM_000265.7:c.651C>G MANE Select | NP_000256.4:p.Asp217Glu |