Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72013004C>G , CM000672.2:g.72013004C>G | GRCh38 |
| NC_000010.10:g.73772762C>G , CM000672.1:g.73772762C>G | GRCh37 |
| NC_000010.9:g.73442768C>G | NCBI36 |
| NG_012635.1:g.53643C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004273.5:c.*4533C>G MANE Select | NP_004264.2:n.*4533C>G |
| ENST00000373115.5:c.*4533C>G MANE Select | ENSP00000362207.4:n.*4533C>G |
| NM_004273.4:c.*4533C>G | NP_004264.2:n.*4533C>G |
| ENST00000373115.4:c.*4533C>G | ENSP00000362207.4:n.*4533C>G |
| XM_006718075.2:c.*4533C>G | XP_006718138.1:n.*4533C>G |
| XM_006718075.4:c.*4533C>G | XP_006718138.1:n.*4533C>G |
| XM_011540369.1:c.*4533C>G | XP_011538671.1:n.*4533C>G |
| XM_011540369.2:c.*4533C>G | XP_011538671.1:n.*4533C>G |