Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2866836G>A , CM000686.2:g.2866836G>A | GRCh38 |
| NC_000024.9:g.2734877G>A , CM000686.1:g.2734877G>A | GRCh37 |
| NC_000024.8:g.2794877G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250784.13:c.734G>A MANE Select | ENSP00000250784.7:p.Arg245Gln | |
| ENST00000250784.12:c.734G>A | ENSP00000250784.7:p.Arg245Gln | |
| ENST00000430575.1:c.761G>A | ENSP00000415317.1:p.Arg254Gln | |
| ENST00000477725.1:n.878G>A | ||
| ENST00000515575.1:n.42+12065G>A | ||
| NM_001008.3:c.734G>A | NP_000999.1:p.Arg245Gln | |
| NM_001008.4:c.734G>A MANE Select | NP_000999.1:p.Arg245Gln |