Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159886725A>C , CM000663.2:g.159886725A>C | GRCh38 |
| NC_000001.10:g.159856515A>C , CM000663.1:g.159856515A>C | GRCh37 |
| NC_000001.9:g.158123139A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368099.9:c.589-36T>G MANE Select | ENSP00000357079.4:n.589-36T>G | |
| ENST00000368099.8:c.589-36T>G | ENSP00000357079.4:n.589-36T>G | |
| ENST00000426543.6:c.334-36T>G | ENSP00000403044.2:n.334-36T>G | |
| ENST00000476696.5:c.589-36T>G | ENSP00000483972.1:n.589-36T>G | |
| ENST00000479940.2:c.334-36T>G | ENSP00000478944.1:n.334-36T>G | |
| NM_012337.2:c.589-36T>G | NP_036469.2:n.589-36T>G | |
| NM_012337.3:c.589-36T>G MANE Select | NP_036469.2:n.589-36T>G |