Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122050640G>C , CM000665.2:g.122050640G>C | GRCh38 |
| NC_000003.11:g.121769487G>C , CM000665.1:g.121769487G>C | GRCh37 |
| NC_000003.10:g.123252177G>C | NCBI36 |
| NG_029928.1:g.279G>C | |
| NG_031870.2:g.14915C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011512739.1:c.-348+9780C>G | XP_011511041.1:n.-348+9780C>G | |
| XM_011512739.2:c.-348+9780C>G | XP_011511041.1:n.-348+9780C>G |