Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101346549C>T , CM000685.2:g.101346549C>T | GRCh38 |
| NC_000023.10:g.100601537C>T , CM000685.1:g.100601537C>T | GRCh37 |
| NC_000023.9:g.100488193C>T | NCBI36 |
| NG_011734.1:g.7421G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.244G>A MANE Select | ENSP00000361993.3:p.Glu82Lys | |
| ENST00000644112.2:c.*1838G>A | ENSP00000494385.1:n.*1838G>A | |
| ENST00000645279.1:c.*438G>A | ENSP00000494239.1:n.*438G>A | |
| ENST00000647480.1:n.761G>A | ||
| ENST00000372902.3:c.244G>A | ENSP00000361993.3:p.Glu82Lys | |
| NM_004085.3:c.244G>A | NP_004076.1:p.Glu82Lys | |
| NM_004085.4:c.244G>A MANE Select | NP_004076.1:p.Glu82Lys | |
| NM_001145951.2:c.*1838G>A | NP_001139423.1:n.*1838G>A |