Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218881684G>A , CM000664.2:g.218881684G>A | GRCh38 |
| NC_000002.11:g.219746406G>A , CM000664.1:g.219746406G>A | GRCh37 |
| NC_000002.10:g.219454650G>A | NCBI36 |
| NG_012179.1:g.6152G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.114-477G>A MANE Select | ENSP00000258411.3:n.114-477G>A | |
| ENST00000258411.7:c.114-477G>A | ENSP00000258411.3:n.114-477G>A | |
| NM_025216.2:c.114-477G>A | NP_079492.2:n.114-477G>A | |
| XM_011511928.1:c.62+217G>A | XP_011510230.1:n.62+217G>A | |
| XM_011511929.1:c.18-477G>A | XP_011510231.1:n.18-477G>A | |
| XM_011511930.1:c.114-477G>A | XP_011510232.1:n.114-477G>A | |
| XM_011511929.2:c.18-477G>A | XP_011510231.1:n.18-477G>A | |
| NM_025216.3:c.114-477G>A MANE Select | NP_079492.2:n.114-477G>A |