Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73949922G>A , CM000676.2:g.73949922G>A | GRCh38 |
| NC_000014.8:g.74416625G>A , CM000676.1:g.74416625G>A | GRCh37 |
| NC_000014.7:g.73486378G>A | NCBI36 |
| NG_032805.1:g.4989G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152445.3:c.54+51C>T MANE Select | NP_689658.3:n.54+51C>T |
| ENST00000286544.5:c.54+51C>T MANE Select | ENSP00000286544.4:n.54+51C>T |
| NM_152445.2:c.243+51C>T | NP_689658.2:n.243+51C>T |
| ENST00000286544.3:c.243+51C>T | ENSP00000286544.3:n.243+51C>T |
| ENST00000651776.1:c.243+51C>T | ENSP00000499021.1:n.243+51C>T |
| XM_011536475.1:c.243+51C>T | XP_011534777.1:n.243+51C>T |
| XM_011536475.2:c.243+51C>T | XP_011534777.1:n.243+51C>T |