ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63944692A>C , CM000679.2:g.63944692A>C | GRCh38 |
| NC_000017.10:g.62022052A>C , CM000679.1:g.62022052A>C | GRCh37 |
| NC_000017.9:g.59375784A>C | NCBI36 |
| NG_011699.1:g.33227T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3893T>G MANE Select | ENSP00000396320.1:p.Phe1298Cys | |
| ENST00000578147.5:c.3893T>G | ENSP00000463963.1:p.Phe1298Cys | |
| NM_000334.4:c.3893T>G MANE Select | NP_000325.4:p.Phe1298Cys | |
| XM_005257566.3:c.3893T>G | XP_005257623.1:p.Phe1298Cys |