Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101346645T>G , CM000685.2:g.101346645T>G | GRCh38 |
| NC_000023.10:g.100601633T>G , CM000685.1:g.100601633T>G | GRCh37 |
| NC_000023.9:g.100488289T>G | NCBI36 |
| NG_011734.1:g.7325A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.148A>C MANE Select | ENSP00000361993.3:p.Lys50Gln | |
| ENST00000644112.2:c.*1742A>C | ENSP00000494385.1:n.*1742A>C | |
| ENST00000645279.1:c.*342A>C | ENSP00000494239.1:n.*342A>C | |
| ENST00000647480.1:n.665A>C | ||
| ENST00000372902.3:c.148A>C | ENSP00000361993.3:p.Lys50Gln | |
| NM_004085.3:c.148A>C | NP_004076.1:p.Lys50Gln | |
| NM_004085.4:c.148A>C MANE Select | NP_004076.1:p.Lys50Gln | |
| NM_001145951.2:c.*1742A>C | NP_001139423.1:n.*1742A>C |