Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103458506C>A , CM000672.2:g.103458506C>A | GRCh38 |
| NC_000010.10:g.105218263C>A , CM000672.1:g.105218263C>A | GRCh37 |
| NC_000010.9:g.105208253C>A | NCBI36 |
| NG_016855.1:g.5386G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329905.6:c.246G>T MANE Select | ENSP00000329926.6:p.Trp82Cys | |
| ENST00000329905.5:c.246G>T | ENSP00000329926.5:p.Trp82Cys | |
| NM_001001412.3:c.246G>T | NP_001001412.3:p.Trp82Cys | |
| NM_001001412.4:c.246G>T MANE Select | NP_001001412.3:p.Trp82Cys |