Linked Data
dbSNP Id:
rs200876454
ExAC:
3:193185227 G / A
gnomAD v3:
3-193467438-G-A
gnomAD v4:
3-193467438-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193467438G>A , CM000665.2:g.193467438G>A | GRCh38 |
| NC_000003.11:g.193185227G>A , CM000665.1:g.193185227G>A | GRCh37 |
| NC_000003.10:g.194667921G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342695.9:c.992C>T MANE Select | ENSP00000339182.4:p.Ser331Phe | |
| ENST00000295548.3:c.992C>T | ENSP00000295548.3:p.Ser331Phe | |
| ENST00000342695.8:c.992C>T | ENSP00000339182.4:p.Ser331Phe | |
| ENST00000392443.7:c.992C>T | ENSP00000376238.3:p.Ser331Phe | |
| ENST00000450950.6:c.*435C>T | ENSP00000402023.2:n.*435C>T | |
| ENST00000490925.5:n.1100C>T | ||
| NM_032279.3:c.992C>T | NP_115655.2:p.Ser331Phe | |
| XM_005247829.2:c.992C>T | XP_005247886.1:p.Ser331Phe | |
| XM_011513232.1:c.992C>T | XP_011511534.1:p.Ser331Phe | |
| XR_241512.2:n.1293C>T | ||
| XR_924191.1:n.1293C>T | ||
| XM_011513232.2:c.992C>T | XP_011511534.1:p.Ser331Phe | |
| XM_017007318.1:c.665C>T | XP_016862807.1:p.Ser222Phe | |
| XM_017007319.1:c.992C>T | XP_016862808.1:p.Ser331Phe | |
| XR_001740324.2:n.1062C>T | ||
| XR_001740325.1:n.1062C>T | ||
| XR_002959602.1:n.1226C>T | ||
| XR_924191.3:n.1062C>T | ||
| NM_032279.4:c.992C>T MANE Select | NP_115655.2:p.Ser331Phe |