Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23189600G>T , CM000678.2:g.23189600G>T | GRCh38 |
| NC_000016.9:g.23200921G>T , CM000678.1:g.23200921G>T | GRCh37 |
| NC_000016.8:g.23108422G>T | NCBI36 |
| NG_011909.1:g.11882G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039.4:c.547G>T MANE Select | NP_001030.2:p.Gly183Cys |
| ENST00000300061.3:c.547G>T MANE Select | ENSP00000300061.2:p.Gly183Cys |
| NM_001039.3:c.547G>T | NP_001030.2:p.Gly183Cys |
| ENST00000300061.2:c.547G>T | ENSP00000300061.2:p.Gly183Cys |