Linked Data
dbSNP Id:
rs765718622
ExAC:
7:107336397 G / A
gnomAD v2:
7-107336397-G-A
gnomAD v4:
7-107695952-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107695952G>A , CM000669.2:g.107695952G>A | GRCh38 |
| NC_000007.13:g.107336397G>A , CM000669.1:g.107336397G>A | GRCh37 |
| NC_000007.12:g.107123633G>A | NCBI36 |
| NG_008489.1:g.40318G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1457G>A MANE Select | ENSP00000494017.1:p.Cys486Tyr | |
| ENST00000644846.1:c.168G>A | ||
| ENST00000265715.7:c.1457G>A | ENSP00000265715.3:p.Cys486Tyr | |
| ENST00000460748.1:n.560G>A | ||
| ENST00000477350.5:n.304G>A | ||
| ENST00000480841.5:n.306G>A | ||
| ENST00000497446.5:n.472G>A | ||
| NM_000441.1:c.1457G>A | NP_000432.1:p.Cys486Tyr | |
| XM_005250425.1:c.1457G>A | XP_005250482.1:p.Cys486Tyr | |
| XM_005250425.2:c.1457G>A | XP_005250482.1:p.Cys486Tyr | |
| XM_017012318.1:c.1379G>A | XP_016867807.1:p.Cys460Tyr | |
| NM_000441.2:c.1457G>A MANE Select | NP_000432.1:p.Cys486Tyr |