Linked Data
dbSNP Id:
rs1184626606
gnomAD v3:
X-65523638-G-A
gnomAD v4:
X-65523638-G-A
COSMIC:
COSM4390772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.65523638G>A , CM000685.2:g.65523638G>A | GRCh38 |
| NC_000023.10:g.64743518G>A , CM000685.1:g.64743518G>A | GRCh37 |
| NC_000023.9:g.64660243G>A | NCBI36 |
| NG_016369.1:g.16169C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374811.8:c.1370C>T MANE Select | ENSP00000363944.3:p.Ser457Phe | |
| ENST00000676986.1:c.1319C>T | ENSP00000503577.1:p.Ser440Phe | |
| ENST00000677056.1:c.*773C>T | ENSP00000504224.1:n.*773C>T | |
| ENST00000677087.1:c.1022C>T | ENSP00000503907.1:p.Ser341Phe | |
| ENST00000677154.1:n.1402C>T | ||
| ENST00000677834.1:n.1358C>T | ||
| ENST00000677969.1:c.1319C>T | ENSP00000503410.1:p.Ser440Phe | |
| ENST00000677986.1:n.2303C>T | ||
| ENST00000678074.1:n.2350C>T | ||
| ENST00000678173.1:n.1453C>T | ||
| ENST00000678547.1:n.1644C>T | ||
| ENST00000678570.1:c.1412C>T | ENSP00000504558.1:p.Ser471Phe | |
| ENST00000678705.1:n.2438C>T | ||
| ENST00000678823.1:c.1370C>T | ENSP00000503795.1:p.Ser457Phe | |
| ENST00000678848.1:n.4626C>T | ||
| ENST00000678956.1:c.1370C>T | ENSP00000504653.1:p.Ser457Phe | |
| ENST00000679056.1:n.1465C>T | ||
| ENST00000679116.1:n.1586C>T | ||
| ENST00000679261.1:n.1455C>T | ||
| ENST00000679277.1:n.1923C>T | ||
| ENST00000374804.9:c.1193C>T | ENSP00000363937.5:p.Ser398Phe | |
| ENST00000374807.9:c.1319C>T | ENSP00000363940.5:p.Ser440Phe | |
| ENST00000374811.7:c.1370C>T | ENSP00000363944.3:p.Ser457Phe | |
| ENST00000484069.1:c.*384C>T | ENSP00000473471.1:n.*384C>T | |
| NM_001170649.1:c.1319C>T | NP_001164120.1:p.Ser440Phe | |
| NM_001170650.1:c.1193C>T | NP_001164121.1:p.Ser398Phe | |
| NM_031206.4:c.1370C>T | NP_112483.1:p.Ser457Phe | |
| XM_005262301.1:c.1370C>T | XP_005262358.1:p.Ser457Phe | |
| XM_005262304.1:c.1370C>T | XP_005262361.1:p.Ser457Phe | |
| XM_005262305.3:c.1370C>T | XP_005262362.1:p.Ser457Phe | |
| XM_005262306.3:c.1370C>T | XP_005262363.1:p.Ser457Phe | |
| XM_005262307.1:c.464C>T | XP_005262364.1:p.Ser155Phe | |
| XM_011531045.1:c.1244C>T | XP_011529347.1:p.Ser415Phe | |
| XM_011531046.1:c.1370C>T | XP_011529348.1:p.Ser457Phe | |
| XR_244504.1:n.1446C>T | ||
| XR_430522.1:n.1446C>T | ||
| XR_938411.1:n.1446C>T | ||
| XR_938412.1:n.1446C>T | ||
| XM_005262301.2:c.1370C>T | XP_005262358.1:p.Ser457Phe | |
| XM_005262304.2:c.1370C>T | XP_005262361.1:p.Ser457Phe | |
| XM_005262305.4:c.1370C>T | XP_005262362.1:p.Ser457Phe | |
| XM_005262306.4:c.1370C>T | XP_005262363.1:p.Ser457Phe | |
| XM_011531045.2:c.1244C>T | XP_011529347.1:p.Ser415Phe | |
| XM_011531046.2:c.1370C>T | XP_011529348.1:p.Ser457Phe | |
| XM_017029877.2:c.1319C>T | XP_016885366.1:p.Ser440Phe | |
| XM_017029878.2:c.1319C>T | XP_016885367.1:p.Ser440Phe | |
| XM_017029879.2:c.464C>T | XP_016885368.1:p.Ser155Phe | |
| XM_017029880.2:c.413C>T | XP_016885369.1:p.Ser138Phe | |
| XR_001755730.2:n.1382C>T | ||
| XR_001755731.2:n.1433C>T | ||
| XR_001755732.2:n.1433C>T | ||
| XR_001755733.2:n.1382C>T | ||
| XR_244504.2:n.1433C>T | ||
| XR_430522.2:n.1433C>T | ||
| XR_938412.2:n.1433C>T | ||
| NM_001375328.1:c.1370C>T | NP_001362257.1:p.Ser457Phe | |
| NM_001375329.1:c.1370C>T | NP_001362258.1:p.Ser457Phe | |
| NM_001375330.1:c.1370C>T | NP_001362259.1:p.Ser457Phe | |
| NM_001375331.1:c.1319C>T | NP_001362260.1:p.Ser440Phe | |
| NM_001375332.1:c.413C>T | NP_001362261.1:p.Ser138Phe | |
| NM_001375333.1:c.1319C>T | NP_001362262.1:p.Ser440Phe | |
| NM_001375334.1:c.1370C>T | NP_001362263.1:p.Ser457Phe | |
| NM_001375335.1:c.1370C>T | NP_001362264.1:p.Ser457Phe | |
| NM_001375336.1:c.1319C>T | NP_001362265.1:p.Ser440Phe | |
| NM_001375337.1:c.1319C>T | NP_001362266.1:p.Ser440Phe | |
| NM_031206.7:c.1370C>T MANE Select | NP_112483.1:p.Ser457Phe | |
| NR_164681.1:n.1442C>T | ||
| NM_001170649.2:c.1319C>T | NP_001164120.1:p.Ser440Phe | |
| NM_001170650.2:c.1193C>T | NP_001164121.1:p.Ser398Phe |