gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268979C>T , CM000668.2:g.31268979C>T | GRCh38 |
| NC_000006.11:g.31236756C>T , CM000668.1:g.31236756C>T | GRCh37 |
| NC_000006.10:g.31344735C>T | NCBI36 |
| NG_029422.2:g.8153G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*190G>A MANE Select | ENSP00000365402.5:n.*190G>A | |
| ENST00000376228.9:c.*190G>A | ENSP00000365402.5:n.*190G>A | |
| ENST00000376237.8:c.*878G>A | ENSP00000365412.4:n.*878G>A | |
| ENST00000383329.7:c.*190G>A | ENSP00000372819.3:n.*190G>A | |
| ENST00000466892.5:n.524G>A | ||
| ENST00000470363.5:n.1049G>A | ||
| ENST00000487245.5:n.1650G>A | ||
| NM_002117.5:c.*190G>A | NP_002108.4:n.*190G>A | |
| NM_002117.6:c.*190G>A MANE Select | NP_002108.4:n.*190G>A |