Linked Data
ClinVar Variation Id:
31590
ClinVar RCV Id:
RCV000024296
dbSNP Id:
rs397514478
gnomAD v2:
8-42711484-G-A
gnomAD v4:
8-42856341-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42856341G>A , CM000670.2:g.42856341G>A | GRCh38 |
| NC_000008.10:g.42711484G>A , CM000670.1:g.42711484G>A | GRCh37 |
| NC_000008.9:g.42830641G>A | NCBI36 |
| NG_032868.1:g.45383C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527424.6:c.595C>T MANE Select | ENSP00000434797.1:p.Arg199Cys | |
| ENST00000240159.8:c.*170C>T | ENSP00000240159.4:n.*170C>T | |
| ENST00000319073.5:c.*170C>T | ENSP00000325969.5:n.*170C>T | |
| ENST00000319104.7:c.397-5344C>T | ENSP00000326138.3:n.397-5344C>T | |
| ENST00000526349.5:c.343C>T | ENSP00000435782.1:p.Arg115Cys | |
| ENST00000527424.5:c.595C>T | ENSP00000434797.1:p.Arg199Cys | |
| ENST00000534961.5:c.595C>T | ENSP00000445725.1:p.Arg199Cys | |
| NM_001160223.1:c.595C>T | NP_001153695.1:p.Arg199Cys | |
| NM_001160224.1:c.397-5344C>T | NP_001153696.1:n.397-5344C>T | |
| NM_001160225.1:c.343C>T | NP_001153697.1:p.Arg115Cys | |
| NM_030954.3:c.595C>T | NP_112216.3:p.Arg199Cys | |
| NR_027668.1:n.998C>T | ||
| NR_027669.1:n.768C>T | ||
| XM_006716404.1:c.595C>T | XP_006716467.1:p.Arg199Cys | |
| XM_006716405.1:c.445C>T | XP_006716468.1:p.Arg149Cys | |
| XM_006716406.2:c.343C>T | XP_006716469.1:p.Arg115Cys | |
| XM_011544666.1:c.595C>T | XP_011542968.1:p.Arg199Cys | |
| XM_006716404.2:c.595C>T | XP_006716467.1:p.Arg199Cys | |
| XM_006716405.3:c.445C>T | XP_006716468.1:p.Arg149Cys | |
| XM_011544666.3:c.595C>T | XP_011542968.1:p.Arg199Cys | |
| XM_017013881.1:c.595C>T | XP_016869370.1:p.Arg199Cys | |
| XM_017013882.2:c.343C>T | XP_016869371.1:p.Arg115Cys | |
| XR_001745604.2:n.919C>T | ||
| XR_001745605.1:n.577C>T | ||
| XR_001745606.1:n.609C>T | ||
| XR_002956648.1:n.1081C>T | ||
| XR_002956649.1:n.839C>T | ||
| NM_030954.4:c.595C>T MANE Select | NP_112216.3:p.Arg199Cys | |
| NM_001160224.2:c.397-5344C>T | NP_001153696.1:n.397-5344C>T | |
| NM_001160225.2:c.343C>T | NP_001153697.1:p.Arg115Cys | |
| NR_027668.2:n.880C>T | ||
| NR_027669.2:n.650C>T | ||
| NM_001160223.2:c.595C>T | NP_001153695.1:p.Arg199Cys |