Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111712504G>C , CM000664.2:g.111712504G>C | GRCh38 |
| NC_000002.11:g.112470081G>C , CM000664.1:g.112470081G>C | GRCh37 |
| NC_000002.10:g.112186552G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643447.1:c.919+17775C>G | ENSP00000494863.1:n.919+17775C>G | |
| XM_011512303.1:c.878+937G>C | XP_011510605.1:n.878+937G>C |