Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94055297C>T , CM000663.2:g.94055297C>T | GRCh38 |
| NC_000001.10:g.94520853C>T , CM000663.1:g.94520853C>T | GRCh37 |
| NC_000001.9:g.94293441C>T | NCBI36 |
| NG_009073.1:g.70853G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.2401G>A MANE Select | NP_000341.2:p.Ala801Thr |
| ENST00000370225.4:c.2401G>A MANE Select | ENSP00000359245.3:p.Ala801Thr |
| NM_000350.2:c.2401G>A | NP_000341.2:p.Ala801Thr |
| ENST00000370225.3:c.2401G>A | ENSP00000359245.3:p.Ala801Thr |
| ENST00000536513.5:c.-65+7877G>A | ENSP00000439707.2:n.-65+7877G>A |
| ENST00000649773.1:c.2179G>A | ENSP00000496882.1:p.Ala727Thr |