Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663109G>T , CM000676.2:g.36663109G>T | GRCh38 |
| NC_000014.8:g.37132314G>T , CM000676.1:g.37132314G>T | GRCh37 |
| NC_000014.7:g.36202065G>T | NCBI36 |
| NG_013357.1:g.10542G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.217G>T MANE Select | ENSP00000355245.6:p.Gly73Cys | |
| ENST00000555639.2:c.217G>T | ENSP00000501203.1:p.Gly73Cys | |
| ENST00000361487.6:c.217G>T | ENSP00000355245.6:p.Gly73Cys | |
| ENST00000402703.6:c.217G>T | ENSP00000384817.2:p.Gly73Cys | |
| ENST00000554201.1:c.-345G>T | ENSP00000450434.1:n.-345G>T | |
| ENST00000555639.1:n.519G>T | ||
| NM_006194.3:c.217G>T | NP_006185.1:p.Gly73Cys | |
| NM_001372076.1:c.217G>T MANE Select | NP_001359005.1:p.Gly73Cys | |
| NM_006194.4:c.217G>T | NP_006185.1:p.Gly73Cys |