Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13826622G>T , CM000680.2:g.13826622G>T | GRCh38 |
| NC_000018.9:g.13826621G>T , CM000680.1:g.13826621G>T | GRCh37 |
| NC_000018.8:g.13816621G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324750.5:c.857G>T | ENSP00000318077.3:p.Cys286Phe | |
| ENST00000589410.2:c.857G>T MANE Select | ENSP00000468086.2:p.Cys286Phe | |
| ENST00000324750.4:c.857G>T | ENSP00000318077.3:p.Cys286Phe | |
| NM_005913.2:c.857G>T | NP_005904.1:p.Cys286Phe | |
| NM_005913.3:c.857G>T MANE Select | NP_005904.1:p.Cys286Phe |