Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231431G= , CM000672.2:g.68231431G= | GRCh38 |
| NC_000010.10:g.69991188G= , CM000672.1:g.69991188G= | GRCh37 |
| NC_000010.9:g.69661194G= | NCBI36 |
| NG_031934.1:g.5683C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.247C= MANE Select | ENSP00000362777.3:p.Gln83= | |
| ENST00000373673.4:c.247C= | ENSP00000362777.3:p.Gln83= | |
| NM_145178.3:c.247C= | NP_660161.1:p.Gln83= | |
| NM_145178.4:c.247C= MANE Select | NP_660161.1:p.Gln83= |