Linked Data
dbSNP Id:
rs764556664
ExAC:
12:132426140 G / A
gnomAD v2:
12-132426140-G-A
gnomAD v3:
12-131941595-G-A
gnomAD v4:
12-131941595-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941595G>A , CM000674.2:g.131941595G>A | GRCh38 |
| NC_000012.11:g.132426140G>A , CM000674.1:g.132426140G>A | GRCh37 |
| NC_000012.10:g.130992093G>A | NCBI36 |
| NG_013039.1:g.17396G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.848G>A MANE Select | ENSP00000365837.3:p.Arg283Lys | |
| ENST00000322060.9:c.764G>A | ENSP00000324726.5:p.Arg255Lys | |
| ENST00000376649.7:c.848G>A | ENSP00000365837.3:p.Arg283Lys | |
| ENST00000443358.6:c.764G>A | ENSP00000392451.2:p.Arg255Lys | |
| ENST00000535067.5:c.358-1944G>A | ENSP00000443969.1:n.358-1944G>A | |
| ENST00000542167.2:c.689G>A | ENSP00000438948.1:p.Arg230Lys | |
| ENST00000543754.1:n.669G>A | ||
| NM_001002019.2:c.764G>A | NP_001002019.1:p.Arg255Lys | |
| NM_001002020.2:c.764G>A | NP_001002020.1:p.Arg255Lys | |
| NM_025215.5:c.848G>A | NP_079491.2:p.Arg283Lys | |
| XM_011538768.1:c.449G>A | XP_011537070.1:p.Arg150Lys | |
| XM_011538768.3:c.449G>A | XP_011537070.1:p.Arg150Lys | |
| XR_001748872.1:n.1303G>A | ||
| NM_001002019.3:c.764G>A | NP_001002019.1:p.Arg255Lys | |
| NM_001002020.3:c.764G>A | NP_001002020.1:p.Arg255Lys | |
| NM_025215.6:c.848G>A MANE Select | NP_079491.2:p.Arg283Lys |