Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122473665C= , CM000672.2:g.122473665C= | GRCh38 |
| NC_000010.10:g.124233181C= , CM000672.1:g.124233181C= | GRCh37 |
| NC_000010.9:g.124223171C= | NCBI36 |
| NG_011554.1:g.17141C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002775.5:c.472+11541C= MANE Select | NP_002766.1:n.472+11541C= |
| ENST00000368984.8:c.472+11541C= MANE Select | ENSP00000357980.3:n.472+11541C= |
| NM_002775.4:c.472+11541C= | NP_002766.1:n.472+11541C= |
| ENST00000368984.7:c.472+11541C= | ENSP00000357980.3:n.472+11541C= |
| ENST00000648167.1:c.154+14956C= | ENSP00000498033.1:n.154+14956C= |