Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6034779G>T , CM000674.2:g.6034779G>T | GRCh38 |
| NC_000012.11:g.6143945G>T , CM000674.1:g.6143945G>T | GRCh37 |
| NC_000012.10:g.6014206G>T | NCBI36 |
| NG_009072.1:g.94892C>A | |
| NG_009072.2:g.94892C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2594C>A MANE Select | ENSP00000261405.5:p.Ala865Asp | |
| ENST00000261405.9:c.2594C>A | ENSP00000261405.5:p.Ala865Asp | |
| ENST00000538635.5:n.421-40845C>A | ||
| NM_000552.3:c.2594C>A | NP_000543.2:p.Ala865Asp | |
| NM_000552.4:c.2594C>A | NP_000543.2:p.Ala865Asp | |
| NM_000552.5:c.2594C>A MANE Select | NP_000543.3:p.Ala865Asp |