Linked Data
dbSNP Id:
rs2074724
gnomAD v2:
7-81336265-C-T
gnomAD v3:
7-81706949-C-T
gnomAD v4:
7-81706949-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81706949C>T , CM000669.2:g.81706949C>T | GRCh38 |
| NC_000007.13:g.81336265C>T , CM000669.1:g.81336265C>T | GRCh37 |
| NC_000007.12:g.81174201C>T | NCBI36 |
| NG_016274.1:g.68188G>A | |
| NG_016274.2:g.68188G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222390.11:c.1616+341G>A MANE Select | ENSP00000222390.5:n.1616+341G>A | |
| ENST00000457544.7:c.1601+341G>A | ENSP00000391238.2:n.1601+341G>A | |
| ENST00000222390.9:c.1616+341G>A | ENSP00000222390.5:n.1616+341G>A | |
| ENST00000457544.6:c.1601+341G>A | ENSP00000391238.2:n.1601+341G>A | |
| NM_000601.4:c.1616+341G>A | NP_000592.3:n.1616+341G>A | |
| NM_001010932.1:c.1601+341G>A | NP_001010932.1:n.1601+341G>A | |
| XM_006715956.2:c.1616+341G>A | XP_006716019.1:n.1616+341G>A | |
| XM_011516115.1:c.1601+341G>A | XP_011514417.1:n.1601+341G>A | |
| NM_000601.5:c.1616+341G>A | NP_000592.3:n.1616+341G>A | |
| NM_001010932.2:c.1601+341G>A | NP_001010932.1:n.1601+341G>A | |
| XM_011516115.2:c.1601+341G>A | XP_011514417.1:n.1601+341G>A | |
| NM_000601.6:c.1616+341G>A MANE Select | NP_000592.3:n.1616+341G>A | |
| NM_001010932.3:c.1601+341G>A | NP_001010932.1:n.1601+341G>A |