Linked Data
dbSNP Id:
rs201282783
ExAC:
17:42030328 C / T
gnomAD v2:
17-42030328-C-T
gnomAD v3:
17-43952960-C-T
gnomAD v4:
17-43952960-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43952960C>T , CM000679.2:g.43952960C>T | GRCh38 |
| NC_000017.10:g.42030328C>T , CM000679.1:g.42030328C>T | GRCh37 |
| NC_000017.9:g.39385854C>T | NCBI36 |
| NG_023338.1:g.56510G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592796.2:c.*145G>A | ENSP00000467310.1:n.*145G>A | |
| ENST00000692052.1:c.290G>A MANE Select | ENSP00000509262.1:p.Trp97Ter | |
| ENST00000360085.6:c.290G>A | ENSP00000353198.1:p.Trp97Ter | |
| ENST00000592796.1:c.*145G>A | ENSP00000467310.1:n.*145G>A | |
| NM_004160.4:c.290G>A | NP_004151.3:p.Trp97Ter | |
| XM_011525035.1:c.290G>A | XP_011523337.1:p.Trp97Ter | |
| NM_004160.5:c.290G>A | NP_004151.3:p.Trp97Ter | |
| NM_001394028.1:c.290G>A MANE Select | NP_001380957.1:p.Trp97Ter | |
| NM_001394029.1:c.*145G>A | NP_001380958.1:n.*145G>A | |
| NM_004160.6:c.290G>A | NP_004151.4:p.Trp97Ter |