Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32234760A>G , CM000682.2:g.32234760A>G | GRCh38 |
| NC_000020.10:g.30822563A>G , CM000682.1:g.30822563A>G | GRCh37 |
| NC_000020.9:g.30286224A>G | NCBI36 |
| NG_033906.1:g.31868A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015352.2:c.*99A>G MANE Select | NP_056167.1:n.*99A>G |
| ENST00000375749.8:c.*99A>G MANE Select | ENSP00000364902.3:n.*99A>G |
| NM_015352.1:c.*99A>G | NP_056167.1:n.*99A>G |
| ENST00000375749.7:c.*99A>G | ENSP00000364902.3:n.*99A>G |
| ENST00000706471.1:c.*846A>G | ENSP00000516404.1:n.*846A>G |
| ENST00000706472.1:c.*833A>G | ENSP00000516405.1:n.*833A>G |
| XR_001754218.2:n.1520A>G |