Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122496856A>G , CM000672.2:g.122496856A>G | GRCh38 |
| NC_000010.10:g.124256372A>G , CM000672.1:g.124256372A>G | GRCh37 |
| NC_000010.9:g.124246362A>G | NCBI36 |
| NG_011554.1:g.40332A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.777+7230A>G MANE Select | ENSP00000357980.3:n.777+7230A>G | |
| ENST00000648167.1:c.459+7230A>G | ENSP00000498033.1:n.459+7230A>G | |
| ENST00000368984.7:c.777+7230A>G | ENSP00000357980.3:n.777+7230A>G | |
| NM_002775.4:c.777+7230A>G | NP_002766.1:n.777+7230A>G | |
| NM_002775.5:c.777+7230A>G MANE Select | NP_002766.1:n.777+7230A>G |