Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101346556A>C , CM000685.2:g.101346556A>C | GRCh38 |
| NC_000023.10:g.100601544A>C , CM000685.1:g.100601544A>C | GRCh37 |
| NC_000023.9:g.100488200A>C | NCBI36 |
| NG_011734.1:g.7414T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.237T>G MANE Select | ENSP00000361993.3:p.Asn79Lys | |
| ENST00000644112.2:c.*1831T>G | ENSP00000494385.1:n.*1831T>G | |
| ENST00000645279.1:c.*431T>G | ENSP00000494239.1:n.*431T>G | |
| ENST00000647480.1:n.754T>G | ||
| ENST00000372902.3:c.237T>G | ENSP00000361993.3:p.Asn79Lys | |
| NM_004085.3:c.237T>G | NP_004076.1:p.Asn79Lys | |
| NM_004085.4:c.237T>G MANE Select | NP_004076.1:p.Asn79Lys | |
| NM_001145951.2:c.*1831T>G | NP_001139423.1:n.*1831T>G |