Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100806447C>T , CM000669.2:g.100806447C>T | GRCh38 |
| NC_000007.13:g.100404069C>T , CM000669.1:g.100404069C>T | GRCh37 |
| NC_000007.12:g.100242005C>T | NCBI36 |
| NG_052671.1:g.26075G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004444.5:c.2457G>A MANE Select | NP_004435.3:p.Arg819= |
| ENST00000358173.8:c.2457G>A MANE Select | ENSP00000350896.3:p.Arg819= |
| NM_004444.4:c.2457G>A | NP_004435.3:p.Arg819= |
| ENST00000358173.7:c.2457G>A | ENSP00000350896.3:p.Arg819= |
| ENST00000360620.7:c.2457G>A | ENSP00000353833.3:p.Arg819= |
| ENST00000478459.5:n.936G>A | |
| ENST00000487222.5:n.3658G>A | |
| ENST00000492403.1:n.338G>A | |
| ENST00000616502.4:c.*922G>A | ENSP00000482702.1:n.*922G>A |
| XM_017011816.1:c.2511G>A | XP_016867305.1:p.Arg837= |