Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062712A>C , CM000663.2:g.94062712A>C | GRCh38 |
| NC_000001.10:g.94528268A>C , CM000663.1:g.94528268A>C | GRCh37 |
| NC_000001.9:g.94300856A>C | NCBI36 |
| NG_009073.1:g.63438T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1802T>G MANE Select | ENSP00000359245.3:p.Phe601Cys | |
| ENST00000649773.1:c.1802T>G | ENSP00000496882.1:p.Phe601Cys | |
| ENST00000370225.3:c.1802T>G | ENSP00000359245.3:p.Phe601Cys | |
| ENST00000536513.5:c.-65+462T>G | ENSP00000439707.2:n.-65+462T>G | |
| NM_000350.2:c.1802T>G | NP_000341.2:p.Phe601Cys | |
| NM_000350.3:c.1802T>G MANE Select | NP_000341.2:p.Phe601Cys |