Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128343125A>G , CM000671.2:g.128343125A>G | GRCh38 |
| NC_000009.11:g.131105404A>G , CM000671.1:g.131105404A>G | GRCh37 |
| NC_000009.10:g.130145225A>G | NCBI36 |
| NG_017057.1:g.7566A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005094.4:c.-6-2A>G MANE Select | NP_005085.2:n.-6-2A>G |
| ENST00000300456.5:c.-6-2A>G MANE Select | ENSP00000300456.3:n.-6-2A>G |
| NM_005094.3:c.-6-2A>G | NP_005085.2:n.-6-2A>G |
| ENST00000300456.4:c.-6-2A>G | ENSP00000300456.3:n.-6-2A>G |
| ENST00000372870.5:c.77-2A>G | ENSP00000361961.1:n.77-2A>G |
| XM_017014222.1:c.-6-2A>G | XP_016869711.1:n.-6-2A>G |
| XM_024447391.1:c.-6-2A>G | XP_024303159.1:n.-6-2A>G |