Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183232109C>T , CM000663.2:g.183232109C>T | GRCh38 |
| NC_000001.10:g.183201244C>T , CM000663.1:g.183201244C>T | GRCh37 |
| NC_000001.9:g.181467867C>T | NCBI36 |
| NG_007079.2:g.50846C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264144.5:c.1858-78C>T MANE Select | ENSP00000264144.4:n.1858-78C>T | |
| ENST00000264144.4:c.1858-78C>T | ENSP00000264144.4:n.1858-78C>T | |
| ENST00000493293.5:c.1858-78C>T | ENSP00000432063.1:n.1858-78C>T | |
| NM_005562.2:c.1858-78C>T | NP_005553.2:n.1858-78C>T | |
| NM_018891.2:c.1858-78C>T | NP_061486.2:n.1858-78C>T | |
| XM_017001273.2:c.1858-78C>T | XP_016856762.1:n.1858-78C>T | |
| NM_005562.3:c.1858-78C>T MANE Select | NP_005553.2:n.1858-78C>T | |
| NM_018891.3:c.1858-78C>T | NP_061486.2:n.1858-78C>T |