Linked Data
ClinVar Variation Id:
347564
dbSNP Id:
rs142541603
ExAC:
4:140393926 C / T
gnomAD v2:
4-140393926-C-T
gnomAD v3:
4-139472772-C-T
gnomAD v4:
4-139472772-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139472772C>T , CM000666.2:g.139472772C>T | GRCh38 |
| NC_000004.11:g.140393926C>T , CM000666.1:g.140393926C>T | GRCh37 |
| NC_000004.10:g.140613376C>T | NCBI36 |
| NG_051587.1:g.24541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305626.6:c.336C>T MANE Select | ENSP00000306496.5:p.Phe112= | |
| ENST00000652268.1:c.480C>T | ENSP00000498778.1:p.Phe160= | |
| ENST00000305626.5:c.336C>T | ENSP00000306496.5:p.Phe112= | |
| NM_031296.1:c.336C>T | NP_112586.1:p.Phe112= | |
| XM_011532299.1:c.480C>T | XP_011530601.1:p.Phe160= | |
| NM_031296.2:c.336C>T | NP_112586.1:p.Phe112= | |
| NM_031296.3:c.336C>T MANE Select | NP_112586.1:p.Phe112= |