Linked Data
dbSNP Id:
rs771701886
ExAC:
13:47466621 G / A
gnomAD v2:
13-47466621-G-A
gnomAD v4:
13-46892486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46892486G>A , CM000675.2:g.46892486G>A | GRCh38 |
| NC_000013.10:g.47466621G>A , CM000675.1:g.47466621G>A | GRCh37 |
| NC_000013.9:g.46364622G>A | NCBI36 |
| NG_013011.1:g.9549C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542664.4:c.517C>T MANE Select | ENSP00000437737.1:p.Arg173Cys | |
| ENST00000543956.5:c.28C>T | ENSP00000441861.2:p.Arg10Cys | |
| ENST00000378688.8:c.517C>T | ENSP00000367959.3:p.Arg173Cys | |
| ENST00000542664.3:c.517C>T | ENSP00000437737.1:p.Arg173Cys | |
| ENST00000543956.4:c.265C>T | ENSP00000441861.1:p.Arg89Cys | |
| NM_000621.4:c.517C>T | NP_000612.1:p.Arg173Cys | |
| NM_001165947.2:c.265C>T | NP_001159419.1:p.Arg89Cys | |
| NM_000621.5:c.517C>T MANE Select | NP_000612.1:p.Arg173Cys | |
| NM_001165947.5:c.28C>T | NP_001159419.2:p.Arg10Cys | |
| NM_001378924.1:c.517C>T | NP_001365853.1:p.Arg173Cys |