Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269139C>G , CM000668.2:g.31269139C>G | GRCh38 |
| NC_000006.11:g.31236916C>G , CM000668.1:g.31236916C>G | GRCh37 |
| NC_000006.10:g.31344895C>G | NCBI36 |
| NG_029422.2:g.7993G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*30G>C MANE Select | ENSP00000365402.5:n.*30G>C | |
| ENST00000376228.9:c.*30G>C | ENSP00000365402.5:n.*30G>C | |
| ENST00000376237.8:c.*718G>C | ENSP00000365412.4:n.*718G>C | |
| ENST00000383329.7:c.*30G>C | ENSP00000372819.3:n.*30G>C | |
| ENST00000466892.5:n.364G>C | ||
| ENST00000470363.5:n.889G>C | ||
| ENST00000487245.5:n.1490G>C | ||
| NM_002117.5:c.*30G>C | NP_002108.4:n.*30G>C | |
| NM_002117.6:c.*30G>C MANE Select | NP_002108.4:n.*30G>C |