Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056692C>T , CM000663.2:g.94056692C>T | GRCh38 |
| NC_000001.10:g.94522248C>T , CM000663.1:g.94522248C>T | GRCh37 |
| NC_000001.9:g.94294836C>T | NCBI36 |
| NG_009073.1:g.69458G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.2291G>A MANE Select | NP_000341.2:p.Cys764Tyr |
| ENST00000370225.4:c.2291G>A MANE Select | ENSP00000359245.3:p.Cys764Tyr |
| NM_000350.2:c.2291G>A | NP_000341.2:p.Cys764Tyr |
| ENST00000370225.3:c.2291G>A | ENSP00000359245.3:p.Cys764Tyr |
| ENST00000536513.5:c.-65+6482G>A | ENSP00000439707.2:n.-65+6482G>A |
| ENST00000649773.1:c.2161-1377G>A | ENSP00000496882.1:n.2161-1377G>A |