Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056702C>T , CM000663.2:g.94056702C>T | GRCh38 |
| NC_000001.10:g.94522258C>T , CM000663.1:g.94522258C>T | GRCh37 |
| NC_000001.9:g.94294846C>T | NCBI36 |
| NG_009073.1:g.69448G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2281G>A MANE Select | ENSP00000359245.3:p.Ala761Thr | |
| ENST00000649773.1:c.2161-1387G>A | ENSP00000496882.1:n.2161-1387G>A | |
| ENST00000370225.3:c.2281G>A | ENSP00000359245.3:p.Ala761Thr | |
| ENST00000536513.5:c.-65+6472G>A | ENSP00000439707.2:n.-65+6472G>A | |
| NM_000350.2:c.2281G>A | NP_000341.2:p.Ala761Thr | |
| NM_000350.3:c.2281G>A MANE Select | NP_000341.2:p.Ala761Thr |