Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101346584A>G , CM000685.2:g.101346584A>G | GRCh38 |
| NC_000023.10:g.100601572A>G , CM000685.1:g.100601572A>G | GRCh37 |
| NC_000023.9:g.100488228A>G | NCBI36 |
| NG_011734.1:g.7386T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.209T>C MANE Select | ENSP00000361993.3:p.Phe70Ser | |
| ENST00000644112.2:c.*1803T>C | ENSP00000494385.1:n.*1803T>C | |
| ENST00000645279.1:c.*403T>C | ENSP00000494239.1:n.*403T>C | |
| ENST00000647480.1:n.726T>C | ||
| ENST00000372902.3:c.209T>C | ENSP00000361993.3:p.Phe70Ser | |
| NM_004085.3:c.209T>C | NP_004076.1:p.Phe70Ser | |
| NM_004085.4:c.209T>C MANE Select | NP_004076.1:p.Phe70Ser | |
| NM_001145951.2:c.*1803T>C | NP_001139423.1:n.*1803T>C |