Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271465C>G , CM000668.2:g.31271465C>G | GRCh38 |
| NC_000006.11:g.31239242C>G , CM000668.1:g.31239242C>G | GRCh37 |
| NC_000006.10:g.31347221C>G | NCBI36 |
| NG_029422.2:g.5667G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.344-117G>C MANE Select | ENSP00000365402.5:n.344-117G>C | |
| ENST00000376228.9:c.344-117G>C | ENSP00000365402.5:n.344-117G>C | |
| ENST00000376237.8:c.344-134G>C | ENSP00000365412.4:n.344-134G>C | |
| ENST00000383329.7:c.344-117G>C | ENSP00000372819.3:n.344-117G>C | |
| ENST00000415537.1:c.342-117G>C | ||
| ENST00000484378.1:n.496G>C | ||
| ENST00000487245.5:n.586G>C | ||
| ENST00000495835.1:n.533-117G>C | ||
| NM_002117.5:c.344-117G>C | NP_002108.4:n.344-117G>C | |
| NM_002117.6:c.344-117G>C MANE Select | NP_002108.4:n.344-117G>C |