Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119919311C>A , CM000663.2:g.119919311C>A | GRCh38 |
| NC_000001.10:g.120461934C>A , CM000663.1:g.120461934C>A | GRCh37 |
| NC_000001.9:g.120263457C>A | NCBI36 |
| NG_008163.1:g.155343G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024408.4:c.5781+1G>T MANE Select | NP_077719.2:n.5781+1G>T |
| ENST00000256646.7:c.5781+1G>T MANE Select | ENSP00000256646.2:n.5781+1G>T |
| NM_024408.3:c.5781+1G>T | NP_077719.2:n.5781+1G>T |
| ENST00000256646.6:c.5781+1G>T | ENSP00000256646.2:n.5781+1G>T |
| XM_005270901.2:c.5664+1G>T | XP_005270958.1:n.5664+1G>T |
| XM_011541519.1:c.5769+1G>T | XP_011539821.1:n.5769+1G>T |
| XM_011541520.1:c.5664+1G>T | XP_011539822.1:n.5664+1G>T |