Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47881885G>T , CM000681.2:g.47881885G>T | GRCh38 |
| NC_000019.9:g.48385142G>T , CM000681.1:g.48385142G>T | GRCh37 |
| NC_000019.8:g.53076954G>T | NCBI36 |
| NG_016745.1:g.9513C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222002.4:c.472+199C>A MANE Select | ENSP00000222002.2:n.472+199C>A | |
| ENST00000222002.3:c.472+199C>A | ENSP00000222002.2:n.472+199C>A | |
| NM_003167.3:c.472+199C>A | NP_003158.2:n.472+199C>A | |
| NM_003167.4:c.472+199C>A MANE Select | NP_003158.2:n.472+199C>A |