Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152219403G>A , CM000663.2:g.152219403G>A | GRCh38 |
| NC_000001.10:g.152191879G>A , CM000663.1:g.152191879G>A | GRCh37 |
| NC_000001.9:g.150458503G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001009931.3:c.2226C>T MANE Select | NP_001009931.1:p.His742= |
| ENST00000368801.4:c.2226C>T MANE Select | ENSP00000357791.3:p.His742= |
| NM_001009931.2:c.2226C>T | NP_001009931.1:p.His742= |
| ENST00000368801.2:c.2226C>T | ENSP00000357791.2:p.His742= |