Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22032985G>A , CM000685.2:g.22032985G>A | GRCh38 |
| NC_000023.10:g.22051103G>A , CM000685.1:g.22051103G>A | GRCh37 |
| NC_000023.9:g.21961024G>A | NCBI36 |
| NG_007563.2:g.5183G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475778.2:n.406G>A | ||
| ENST00000683214.1:n.406G>A | ||
| ENST00000684143.1:c.-21G>A | ENSP00000508264.1:n.-21G>A | |
| ENST00000379374.5:c.-21G>A MANE Select | ENSP00000368682.4:n.-21G>A | |
| ENST00000379374.4:c.-21G>A | ENSP00000368682.4:n.-21G>A | |
| NM_000444.5:c.-21G>A | NP_000435.3:n.-21G>A | |
| NM_001282754.1:c.-21G>A | NP_001269683.1:n.-21G>A | |
| XM_011545535.1:c.-21G>A | XP_011543837.1:n.-21G>A | |
| XR_001755695.1:n.659G>A | ||
| NM_000444.6:c.-21G>A MANE Select | NP_000435.3:n.-21G>A | |
| NM_001282754.2:c.-21G>A | NP_001269683.1:n.-21G>A |