Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44909395C>G , CM000681.2:g.44909395C>G | GRCh38 |
| NC_000019.9:g.45412652C>G , CM000681.1:g.45412652C>G | GRCh37 |
| NC_000019.8:g.50104492C>G | NCBI36 |
| NG_007084.2:g.8614C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000041.3:c.*145C>G | NP_000032.1:n.*145C>G | |
| NM_001302688.1:c.*145C>G | NP_001289617.1:n.*145C>G | |
| NM_001302689.1:c.*145C>G | NP_001289618.1:n.*145C>G | |
| NM_001302690.1:c.*145C>G | NP_001289619.1:n.*145C>G | |
| NM_001302691.1:c.*145C>G | NP_001289620.1:n.*145C>G |