Linked Data
dbSNP Id:
rs145415894
ExAC:
1:182555115 G / A
gnomAD v2:
1-182555115-G-A
gnomAD v3:
1-182585980-G-A
gnomAD v4:
1-182585980-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182585980G>A , CM000663.2:g.182585980G>A | GRCh38 |
| NC_000001.10:g.182555115G>A , CM000663.1:g.182555115G>A | GRCh37 |
| NC_000001.9:g.180821738G>A | NCBI36 |
| NG_009024.2:g.5994C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367559.7:c.827C>T MANE Select | ENSP00000356530.3:p.Ala276Val | |
| ENST00000539397.1:c.827C>T | ENSP00000440844.1:p.Ala276Val | |
| NM_021133.3:c.827C>T | NP_066956.1:p.Ala276Val | |
| XM_005245411.2:c.827C>T | XP_005245468.1:p.Ala276Val | |
| XR_001737359.1:n.1110C>T | ||
| XR_001737360.1:n.1110C>T | ||
| NM_021133.4:c.827C>T MANE Select | NP_066956.1:p.Ala276Val |