Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506669A>G , CM000672.2:g.122506669A>G | GRCh38 |
| NC_000010.10:g.124266185A>G , CM000672.1:g.124266185A>G | GRCh37 |
| NC_000010.9:g.124256175A>G | NCBI36 |
| NG_011554.1:g.50145A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.778-22A>G MANE Select | ENSP00000357980.3:n.778-22A>G | |
| ENST00000648167.1:c.460-22A>G | ENSP00000498033.1:n.460-22A>G | |
| ENST00000368984.7:c.778-22A>G | ENSP00000357980.3:n.778-22A>G | |
| NM_002775.4:c.778-22A>G | NP_002766.1:n.778-22A>G | |
| NM_002775.5:c.778-22A>G MANE Select | NP_002766.1:n.778-22A>G |