Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811572T>C , CM000677.2:g.71811572T>C | GRCh38 |
| NC_000015.9:g.72103912T>C , CM000677.1:g.72103912T>C | GRCh37 |
| NC_000015.8:g.69890966T>C | NCBI36 |
| NG_009113.2:g.6018T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.208T>C MANE Select | ENSP00000482504.1:p.Phe70Leu | |
| ENST00000617575.4:c.208T>C | ENSP00000482504.1:p.Phe70Leu | |
| ENST00000621098.1:c.208T>C | ENSP00000479962.1:p.Phe70Leu | |
| ENST00000621736.4:c.-57T>C | ENSP00000479254.1:n.-57T>C | |
| NM_014249.3:c.208T>C | NP_055064.1:p.Phe70Leu | |
| NM_016346.3:c.208T>C | NP_057430.1:p.Phe70Leu | |
| XM_011521146.1:c.-57T>C | XP_011519448.1:n.-57T>C | |
| NM_014249.4:c.208T>C MANE Select | NP_055064.1:p.Phe70Leu | |
| NM_016346.4:c.208T>C | NP_057430.1:p.Phe70Leu |