Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675411C>A , CM000674.2:g.52675411C>A | GRCh38 |
| NC_000012.11:g.53069195C>A , CM000674.1:g.53069195C>A | GRCh37 |
| NC_000012.10:g.51355462C>A | NCBI36 |
| NG_008364.1:g.9997G>T | |
| NG_008364.2:g.9997G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1717G>T MANE Select | ENSP00000252244.3:p.Gly573Cys | |
| NM_006121.3:c.1717G>T | NP_006112.3:p.Gly573Cys | |
| NM_006121.4:c.1717G>T MANE Select | NP_006112.3:p.Gly573Cys |