Linked Data
dbSNP Id:
rs764906331
ExAC:
4:88533516 C / A
gnomAD v2:
4-88533516-C-A
gnomAD v3:
4-87612364-C-A
gnomAD v4:
4-87612364-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612364C>A , CM000666.2:g.87612364C>A | GRCh38 |
| NC_000004.11:g.88533516C>A , CM000666.1:g.88533516C>A | GRCh37 |
| NC_000004.10:g.88752540C>A | NCBI36 |
| NG_011595.1:g.8836C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.178C>A MANE Select | ENSP00000498766.1:p.Leu60Met | |
| ENST00000282478.7:c.178C>A | ENSP00000282478.7:p.Leu60Met | |
| ENST00000399271.5:c.178C>A | ENSP00000382213.1:p.Leu60Met | |
| NM_014208.3:c.178C>A MANE Select | NP_055023.2:p.Leu60Met |