Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28355574A>G , CM000675.2:g.28355574A>G | GRCh38 |
| NC_000013.10:g.28929711A>G , CM000675.1:g.28929711A>G | GRCh37 |
| NC_000013.9:g.27827711A>G | NCBI36 |
| NG_012003.1:g.144555T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002019.4:c.2248+1980T>C MANE Select | NP_002010.2:n.2248+1980T>C |
| ENST00000282397.9:c.2248+1980T>C MANE Select | ENSP00000282397.4:n.2248+1980T>C |
| ENST00000282397.8:c.2248+1980T>C | ENSP00000282397.4:n.2248+1980T>C |
| XM_017020485.1:c.2248+1980T>C | XP_016875974.1:n.2248+1980T>C |