Linked Data
dbSNP Id:
rs752246671
ExAC:
1:17674538 G / A
gnomAD v2:
1-17674538-G-A
gnomAD v3:
1-17348043-G-A
gnomAD v4:
1-17348043-G-A
COSMIC:
COSM5473242
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17348043G>A , CM000663.2:g.17348043G>A | GRCh38 |
| NC_000001.10:g.17674538G>A , CM000663.1:g.17674538G>A | GRCh37 |
| NC_000001.9:g.17547125G>A | NCBI36 |
| NG_023261.2:g.44854G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375448.4:c.1150G>A MANE Select | ENSP00000364597.4:p.Val384Met | |
| ENST00000468945.1:n.209G>A | ||
| ENST00000487048.5:n.117G>A | ||
| NM_012387.2:c.1150G>A | NP_036519.2:p.Val384Met | |
| XM_011541150.1:c.964G>A | XP_011539452.1:p.Val322Met | |
| XM_011541151.1:c.1150G>A | XP_011539453.1:p.Val384Met | |
| XM_011541152.1:c.613G>A | XP_011539454.1:p.Val205Met | |
| XM_011541153.1:c.1150G>A | XP_011539455.1:p.Val384Met | |
| XM_011541154.1:c.1150G>A | XP_011539456.1:p.Val384Met | |
| XM_011541155.1:c.1150G>A | XP_011539457.1:p.Val384Met | |
| XM_011541156.1:c.1150G>A | XP_011539458.1:p.Val384Met | |
| XM_011541157.1:c.259G>A | XP_011539459.1:p.Val87Met | |
| XM_011541154.2:c.1150G>A | XP_011539456.1:p.Val384Met | |
| NM_012387.3:c.1150G>A MANE Select | NP_036519.2:p.Val384Met |