Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12694273C>A , CM000671.2:g.12694273C>A | GRCh38 |
| NC_000009.11:g.12694273C>A , CM000671.1:g.12694273C>A | GRCh37 |
| NC_000009.10:g.12684273C>A | NCBI36 |
| NG_011705.1:g.5888C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.277C>A MANE Select | ENSP00000373570.4:p.Arg93Ser | |
| ENST00000388918.9:c.277C>A | ENSP00000373570.4:p.Arg93Ser | |
| ENST00000459790.1:n.532C>A | ||
| ENST00000473763.1:c.277C>A | ENSP00000419006.1:p.Arg93Ser | |
| NM_000550.2:c.277C>A | NP_000541.1:p.Arg93Ser | |
| XR_001746372.2:n.466C>A | ||
| NM_000550.3:c.277C>A MANE Select | NP_000541.1:p.Arg93Ser |