Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12904625A>G , CM000686.2:g.12904625A>G | GRCh38 |
| NC_000024.9:g.15016536A>G , CM000686.1:g.15016536A>G | GRCh37 |
| NC_000024.8:g.13525930A>G | NCBI36 |
| NG_012831.1:g.5518A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001122665.2:c.-3+211A>G | NP_001116137.1:n.-3+211A>G |
| NM_001122665.3:c.-3+211A>G | NP_001116137.1:n.-3+211A>G |
| ENST00000360160.8:c.-3+211A>G | ENSP00000353284.4:n.-3+211A>G |
| ENST00000454054.5:c.-80+211A>G | ENSP00000398953.1:n.-80+211A>G |