Linked Data
dbSNP Id:
rs756738211
ExAC:
1:7863187 C / T
gnomAD v2:
1-7863187-C-T
gnomAD v4:
1-7803127-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7803127C>T , CM000663.2:g.7803127C>T | GRCh38 |
| NC_000001.10:g.7863187C>T , CM000663.1:g.7863187C>T | GRCh37 |
| NC_000001.9:g.7785774C>T | NCBI36 |
| NG_046850.1:g.23748C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377532.8:c.953C>T MANE Select | ENSP00000366755.3:p.Ser318Phe | |
| ENST00000361923.2:c.950C>T | ENSP00000355031.2:p.Ser317Phe | |
| ENST00000377532.7:c.953C>T | ENSP00000366755.3:p.Ser318Phe | |
| ENST00000377541.5:c.950C>T | ENSP00000366764.1:p.Ser317Phe | |
| ENST00000463106.1:n.77C>T | ||
| ENST00000613533.4:c.953C>T | ENSP00000482093.1:p.Ser318Phe | |
| ENST00000614998.4:c.953C>T | ENSP00000479223.1:p.Ser318Phe | |
| NM_001289861.1:c.953C>T | NP_001276790.1:p.Ser318Phe | |
| NM_001289862.1:c.953C>T | NP_001276791.1:p.Ser318Phe | |
| NM_001289863.1:c.953C>T | NP_001276792.1:p.Ser318Phe | |
| NM_001289864.1:c.-5C>T | NP_001276793.1:n.-5C>T | |
| NM_016831.2:c.950C>T | NP_058515.1:p.Ser317Phe | |
| XM_005263521.2:c.953C>T | XP_005263578.1:p.Ser318Phe | |
| XM_005263522.2:c.950C>T | XP_005263579.1:p.Ser317Phe | |
| XM_005263523.2:c.953C>T | XP_005263580.1:p.Ser318Phe | |
| XM_005263524.2:c.953C>T | XP_005263581.1:p.Ser318Phe | |
| XM_005263529.2:c.428C>T | XP_005263586.1:p.Ser143Phe | |
| XM_011542384.1:c.953C>T | XP_011540686.1:p.Ser318Phe | |
| XM_011542385.1:c.953C>T | XP_011540687.1:p.Ser318Phe | |
| XM_011542386.1:c.953C>T | XP_011540688.1:p.Ser318Phe | |
| XM_011542387.1:c.785C>T | XP_011540689.1:p.Ser262Phe | |
| XM_011542388.1:c.605C>T | XP_011540690.1:p.Ser202Phe | |
| XM_011542389.1:c.590C>T | XP_011540691.1:p.Ser197Phe | |
| XM_011542390.1:c.953C>T | XP_011540692.1:p.Ser318Phe | |
| XM_005263524.4:c.953C>T | XP_005263581.1:p.Ser318Phe | |
| XM_017002723.2:c.950C>T | XP_016858212.1:p.Ser317Phe | |
| XM_017002724.2:c.950C>T | XP_016858213.1:p.Ser317Phe | |
| XM_017002726.2:c.950C>T | XP_016858215.1:p.Ser317Phe | |
| XM_017002727.1:c.785C>T | XP_016858216.1:p.Ser262Phe | |
| XM_017002728.1:c.605C>T | XP_016858217.1:p.Ser202Phe | |
| XM_017002729.1:c.590C>T | XP_016858218.1:p.Ser197Phe | |
| XM_017002730.2:c.605C>T | XP_016858219.1:p.Ser202Phe | |
| XM_017002731.2:c.605C>T | XP_016858220.1:p.Ser202Phe | |
| XM_017002732.1:c.605C>T | XP_016858221.1:p.Ser202Phe | |
| XM_017002733.2:c.428C>T | XP_016858222.1:p.Ser143Phe | |
| XM_017002734.1:c.428C>T | XP_016858223.1:p.Ser143Phe | |
| XM_017002735.2:c.428C>T | XP_016858224.1:p.Ser143Phe | |
| XM_017002737.1:c.-313C>T | XP_016858226.1:n.-313C>T | |
| XM_017002738.2:c.-313C>T | XP_016858227.1:n.-313C>T | |
| XM_024450585.1:c.953C>T | XP_024306353.1:p.Ser318Phe | |
| XM_024450586.1:c.953C>T | XP_024306354.1:p.Ser318Phe | |
| XM_024450587.1:c.953C>T | XP_024306355.1:p.Ser318Phe | |
| XM_024450588.1:c.953C>T | XP_024306356.1:p.Ser318Phe | |
| XM_024450590.1:c.950C>T | XP_024306358.1:p.Ser317Phe | |
| XM_024450611.1:c.428C>T | XP_024306379.1:p.Ser143Phe | |
| XM_024450612.1:c.428C>T | XP_024306380.1:p.Ser143Phe | |
| NM_001289861.2:c.953C>T | NP_001276790.1:p.Ser318Phe | |
| NM_001289862.2:c.953C>T | NP_001276791.1:p.Ser318Phe | |
| NM_001289863.3:c.953C>T | NP_001276792.1:p.Ser318Phe | |
| NM_001289864.3:c.-5C>T | NP_001276793.1:n.-5C>T | |
| NM_001377275.1:c.953C>T MANE Select | NP_001364204.1:p.Ser318Phe | |
| NM_001377276.1:c.953C>T | NP_001364205.1:p.Ser318Phe | |
| NM_016831.4:c.950C>T | NP_058515.1:p.Ser317Phe |