Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010935G>T , CM000682.2:g.46010935G>T | GRCh38 |
| NC_000020.10:g.44639574G>T , CM000682.1:g.44639574G>T | GRCh37 |
| NC_000020.9:g.44072981G>T | NCBI36 |
| NG_011468.1:g.7028G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.534G>T MANE Select | ENSP00000361405.3:p.Gly178= | |
| NM_004994.2:c.534G>T | NP_004985.2:p.Gly178= | |
| NM_004994.3:c.534G>T MANE Select | NP_004985.2:p.Gly178= |