Linked Data
dbSNP Id:
rs748128173
ExAC:
19:54403965 C / T
gnomAD v2:
19-54403965-C-T
gnomAD v3:
19-53900711-C-T
gnomAD v4:
19-53900711-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53900711C>T , CM000681.2:g.53900711C>T | GRCh38 |
| NC_000019.9:g.54403965C>T , CM000681.1:g.54403965C>T | GRCh37 |
| NC_000019.8:g.59095777C>T | NCBI36 |
| NG_009114.1:g.23499C>T , LRG_669:g.23499C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.1537C>T | ENSP00000507230.1:p.Arg513Cys | |
| ENST00000682268.1:n.1835C>T | ||
| ENST00000682676.1:n.938C>T | ||
| ENST00000682902.1:n.1839C>T | ||
| ENST00000683513.1:c.1537C>T | ENSP00000506809.1:p.Arg513Cys | |
| ENST00000263431.4:c.1537C>T MANE Select | ENSP00000263431.3:p.Arg513Cys | |
| ENST00000263431.3:c.1537C>T | ENSP00000263431.3:p.Arg513Cys | |
| NM_001316329.1:c.1537C>T | NP_001303258.1:p.Arg513Cys | |
| NM_002739.3:c.1537C>T , LRG_669t1:c.1537C>T | NP_002730.1:p.Arg513Cys | |
| NM_002739.4:c.1537C>T | NP_002730.1:p.Arg513Cys | |
| XM_011527108.1:c.628C>T | XP_011525410.1:p.Arg210Cys | |
| NM_002739.5:c.1537C>T MANE Select | NP_002730.1:p.Arg513Cys | |
| NM_001316329.2:c.1537C>T | NP_001303258.1:p.Arg513Cys |