Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424612C>A , CM000681.2:g.41424612C>A | GRCh38 |
| NC_000019.9:g.41930517C>A , CM000681.1:g.41930517C>A | GRCh37 |
| NC_000019.8:g.46622357C>A | NCBI36 |
| NG_013004.1:g.31824C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.*4C>A MANE Select | ENSP00000269980.2:n.*4C>A | |
| ENST00000269980.6:c.*4C>A | ENSP00000269980.2:n.*4C>A | |
| ENST00000457836.6:c.*4C>A | ENSP00000416000.2:n.*4C>A | |
| ENST00000540732.3:c.*4C>A | ENSP00000443246.1:n.*4C>A | |
| ENST00000544905.1:c.172C>A | ||
| ENST00000595085.5:c.922+1915C>A | ENSP00000471150.2:n.922+1915C>A | |
| NM_000709.3:c.*4C>A | NP_000700.1:n.*4C>A | |
| NM_001164783.1:c.*4C>A | NP_001158255.1:n.*4C>A | |
| NM_000709.4:c.*4C>A MANE Select | NP_000700.1:n.*4C>A | |
| NM_001164783.2:c.*4C>A | NP_001158255.1:n.*4C>A |