Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111712600C>T , CM000664.2:g.111712600C>T | GRCh38 |
| NC_000002.11:g.112470177C>T , CM000664.1:g.112470177C>T | GRCh37 |
| NC_000002.10:g.112186648C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643447.1:c.919+17679G>A | ENSP00000494863.1:n.919+17679G>A | |
| XM_011512303.1:c.878+1033C>T | XP_011510605.1:n.878+1033C>T |