Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78304732C>A , CM000671.2:g.78304732C>A | GRCh38 |
| NC_000009.11:g.80919648C>A , CM000671.1:g.80919648C>A | GRCh37 |
| NC_000009.10:g.80109468C>A | NCBI36 |
| NG_012165.1:g.12590C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.192-3C>A MANE Select | ENSP00000365773.3:n.192-3C>A | |
| ENST00000347159.6:c.192-3C>A | ENSP00000317606.2:n.192-3C>A | |
| ENST00000376588.3:c.192-3C>A | ENSP00000365773.3:n.192-3C>A | |
| NM_021154.4:c.192-3C>A | NP_066977.1:n.192-3C>A | |
| NM_058179.3:c.192-3C>A | NP_478059.1:n.192-3C>A | |
| NM_058179.4:c.192-3C>A MANE Select | NP_478059.1:n.192-3C>A | |
| NM_021154.5:c.192-3C>A | NP_066977.1:n.192-3C>A |