Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54720128G>A , CM000670.2:g.54720128G>A | GRCh38 |
| NC_000008.10:g.55632688G>A , CM000670.1:g.55632688G>A | GRCh37 |
| NC_000008.9:g.55795242G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001375654.1:c.2212-1G>A | NP_001362583.1:n.2212-1G>A |
| ENST00000521465.1:n.571-18815G>A | |
| ENST00000636932.1:c.2212-1G>A | ENSP00000489857.1:n.2212-1G>A |
| ENST00000637698.1:c.2311-1G>A | ENSP00000490104.1:n.2311-1G>A |
| XM_017014157.1:c.1174-1G>A | XP_016869646.1:n.1174-1G>A |
| XM_017014158.1:c.592-1G>A | XP_016869647.1:n.592-1G>A |