Linked Data
gnomAD v4:
6-31269508-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269508A>G , CM000668.2:g.31269508A>G | GRCh38 |
| NC_000006.11:g.31237285A>G , CM000668.1:g.31237285A>G | GRCh37 |
| NC_000006.10:g.31345264A>G | NCBI36 |
| NG_029422.2:g.7624T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1033T>C MANE Select | ENSP00000365402.5:p.Cys345Arg | |
| ENST00000376228.9:c.1033T>C | ENSP00000365402.5:p.Cys345Arg | |
| ENST00000376237.8:c.*620T>C | ENSP00000365412.4:n.*620T>C | |
| ENST00000383329.7:c.1051T>C | ENSP00000372819.3:p.Cys351Arg | |
| ENST00000466892.5:n.159T>C | ||
| ENST00000470363.5:n.791T>C | ||
| ENST00000487245.5:n.1392T>C | ||
| NM_002117.5:c.1033T>C | NP_002108.4:p.Cys345Arg | |
| NM_002117.6:c.1033T>C MANE Select | NP_002108.4:p.Cys345Arg |