Linked Data
gnomAD v4:
4-99420639-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420639C>A , CM000666.2:g.99420639C>A | GRCh38 |
| NC_000004.11:g.100341796C>A , CM000666.1:g.100341796C>A | GRCh37 |
| NC_000004.10:g.100560819C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.719G>T MANE Select | ENSP00000414254.2:p.Cys240Phe | |
| ENST00000209665.8:c.755G>T | ENSP00000209665.4:p.Cys252Phe | |
| ENST00000437033.6:c.719G>T | ENSP00000414254.2:p.Cys240Phe | |
| ENST00000476959.5:c.779G>T | ENSP00000420269.1:p.Cys260Phe | |
| ENST00000482593.5:c.548G>T | ENSP00000420613.1:p.Cys183Phe | |
| NM_000673.4:c.755G>T | NP_000664.2:p.Cys252Phe | |
| NM_001166504.1:c.779G>T | NP_001159976.1:p.Cys260Phe | |
| NM_000673.7:c.719G>T MANE Select | NP_000664.3:p.Cys240Phe | |
| NM_001166504.2:c.779G>T | NP_001159976.1:p.Cys260Phe |