Linked Data
dbSNP Id:
rs367622632
ExAC:
2:31758698 C / A
gnomAD v2:
2-31758698-C-A
gnomAD v3:
2-31533628-C-A
gnomAD v4:
2-31533628-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31533628C>A , CM000664.2:g.31533628C>A | GRCh38 |
| NC_000002.11:g.31758698C>A , CM000664.1:g.31758698C>A | GRCh37 |
| NC_000002.10:g.31612202C>A | NCBI36 |
| NG_008365.1:g.52344G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.420G>T MANE Select | ENSP00000477587.1:p.Trp140Cys | |
| ENST00000622030.1:c.420G>T | ENSP00000477587.1:p.Trp140Cys | |
| NM_000348.3:c.420G>T | NP_000339.2:p.Trp140Cys | |
| XM_011533068.1:c.420G>T | XP_011531370.1:p.Trp140Cys | |
| XM_011533069.1:c.198G>T | XP_011531371.1:p.Trp66Cys | |
| XM_011533070.1:c.165G>T | XP_011531372.1:p.Trp55Cys | |
| XM_011533071.1:c.165G>T | XP_011531373.1:p.Trp55Cys | |
| XM_011533072.1:c.165G>T | XP_011531374.1:p.Trp55Cys | |
| XM_011533069.2:c.198G>T | XP_011531371.1:p.Trp66Cys | |
| XM_011533072.2:c.165G>T | XP_011531374.1:p.Trp55Cys | |
| NM_000348.4:c.420G>T MANE Select | NP_000339.2:p.Trp140Cys |