Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184060132C>G , CM000665.2:g.184060132C>G | GRCh38 |
| NC_000003.11:g.183777920C>G , CM000665.1:g.183777920C>G | GRCh37 |
| NC_000003.10:g.185260614C>G | NCBI36 |
| NG_012749.1:g.12086C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.1142-18C>G MANE Select | ENSP00000322617.1:n.1142-18C>G | |
| ENST00000318351.1:c.1142-18C>G | ENSP00000322617.1:n.1142-18C>G | |
| NM_130770.2:c.1142-18C>G | NP_570126.2:n.1142-18C>G | |
| NM_130770.3:c.1142-18C>G MANE Select | NP_570126.2:n.1142-18C>G |