Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.116925308C= , CM000663.2:g.116925308C= | GRCh38 |
| NC_000001.10:g.117467930C= , CM000663.1:g.117467930C= | GRCh37 |
| NC_000001.9:g.117269453C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393203.3:c.49+15056C= MANE Select | ENSP00000376899.2:n.49+15056C= | |
| ENST00000393203.2:c.49+15056C= | ENSP00000376899.2:n.49+15056C= | |
| NM_020440.3:c.49+15056C= | NP_065173.2:n.49+15056C= | |
| NM_020440.4:c.49+15056C= MANE Select | NP_065173.2:n.49+15056C= |