Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118952749A>G , CM000670.2:g.118952749A>G | GRCh38 |
| NC_000008.10:g.119964988A>G , CM000670.1:g.119964988A>G | GRCh37 |
| NC_000008.9:g.120034169A>G | NCBI36 |
| NG_012202.1:g.4396T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001324095.1:c.-324+371A>G | NP_001311024.1:n.-324+371A>G |
| NM_001324095.2:c.-324+371A>G | NP_001311024.1:n.-324+371A>G |
| XM_005250756.2:c.-60+371A>G | XP_005250813.1:n.-60+371A>G |
| XM_005250756.3:c.-60+371A>G | XP_005250813.1:n.-60+371A>G |