Linked Data
ClinVar Variation Id:
283677
dbSNP Id:
rs146567226
ExAC:
6:152755014 G / A
gnomAD v2:
6-152755014-G-A
gnomAD v3:
6-152433879-G-A
gnomAD v4:
6-152433879-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152433879G>A , CM000668.2:g.152433879G>A | GRCh38 |
| NC_000006.11:g.152755014G>A , CM000668.1:g.152755014G>A | GRCh37 |
| NC_000006.10:g.152796707G>A | NCBI36 |
| NG_012855.1:g.208521C>T | |
| NG_012855.2:g.208521C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.4377C>T MANE Select | ENSP00000356224.5:p.Ser1459= | |
| ENST00000423061.6:c.4398C>T | ENSP00000396024.1:p.Ser1466= | |
| ENST00000671915.1:c.3669C>T | ENSP00000500319.1:n.3669C>T | |
| ENST00000672122.1:c.*2040C>T | ENSP00000500559.1:n.*2040C>T | |
| ENST00000673281.1:c.4371C>T | ENSP00000500893.1:p.Ser1457= | |
| ENST00000341594.9:c.4536C>T | ENSP00000341887.6:p.Ser1512= | |
| ENST00000367248.7:c.*2040C>T | ENSP00000356217.3:n.*2040C>T | |
| ENST00000367253.8:c.4377C>T | ENSP00000356222.4:p.Ser1459= | |
| ENST00000367255.9:c.4377C>T | ENSP00000356224.5:p.Ser1459= | |
| ENST00000423061.5:c.4398C>T | ENSP00000396024.1:p.Ser1466= | |
| ENST00000461872.6:n.4595C>T | ||
| NM_033071.3:c.4398C>T | NP_149062.1:p.Ser1466= | |
| NM_182961.3:c.4377C>T | NP_892006.3:p.Ser1459= | |
| XM_006715407.1:c.4398C>T | XP_006715470.1:p.Ser1466= | |
| XM_006715408.1:c.4398C>T | XP_006715471.1:p.Ser1466= | |
| XM_006715409.1:c.4377C>T | XP_006715472.1:p.Ser1459= | |
| XM_006715410.1:c.4398C>T | XP_006715473.1:p.Ser1466= | |
| XM_006715411.1:c.4347C>T | XP_006715474.1:p.Ser1449= | |
| XM_006715412.1:c.4398C>T | XP_006715475.1:p.Ser1466= | |
| XM_006715413.1:c.4398C>T | XP_006715476.1:p.Ser1466= | |
| XM_006715414.1:c.4326C>T | XP_006715477.1:p.Ser1442= | |
| XM_006715415.1:c.4398C>T | XP_006715478.1:p.Ser1466= | |
| XM_006715416.1:c.4398C>T | XP_006715479.1:p.Ser1466= | |
| XM_006715417.1:c.4398C>T | XP_006715480.1:p.Ser1466= | |
| XM_006715420.1:c.4398C>T | XP_006715483.1:p.Ser1466= | |
| XM_006715421.1:c.4398C>T | XP_006715484.1:p.Ser1466= | |
| XM_006715422.1:c.4239C>T | XP_006715485.1:p.Ser1413= | |
| XM_006715423.1:c.4398C>T | XP_006715486.1:p.Ser1466= | |
| XM_006715424.1:c.4398C>T | XP_006715487.1:p.Ser1466= | |
| XM_006715425.1:c.4398C>T | XP_006715488.1:p.Ser1466= | |
| XM_011535641.1:c.4398C>T | XP_011533943.1:p.Ser1466= | |
| XM_011535642.1:c.4398C>T | XP_011533944.1:p.Ser1466= | |
| XM_011535643.1:c.4233C>T | XP_011533945.1:p.Ser1411= | |
| XM_011535644.1:c.2673C>T | XP_011533946.1:p.Ser891= | |
| XM_011535645.1:c.2166C>T | XP_011533947.1:p.Ser722= | |
| XM_011535646.1:c.4398C>T | XP_011533948.1:p.Ser1466= | |
| XM_006715408.2:c.4398C>T | XP_006715471.1:p.Ser1466= | |
| XM_006715410.2:c.4398C>T | XP_006715473.1:p.Ser1466= | |
| XM_006715412.2:c.4398C>T | XP_006715475.1:p.Ser1466= | |
| XM_006715413.2:c.4398C>T | XP_006715476.1:p.Ser1466= | |
| XM_006715415.2:c.4398C>T | XP_006715478.1:p.Ser1466= | |
| XM_006715416.2:c.4398C>T | XP_006715479.1:p.Ser1466= | |
| XM_006715417.2:c.4398C>T | XP_006715480.1:p.Ser1466= | |
| XM_006715420.2:c.4398C>T | XP_006715483.1:p.Ser1466= | |
| XM_006715421.2:c.4398C>T | XP_006715484.1:p.Ser1466= | |
| XM_006715423.2:c.4398C>T | XP_006715486.1:p.Ser1466= | |
| XM_006715424.2:c.4398C>T | XP_006715487.1:p.Ser1466= | |
| XM_006715425.2:c.4398C>T | XP_006715488.1:p.Ser1466= | |
| XM_011535641.2:c.4398C>T | XP_011533943.1:p.Ser1466= | |
| XM_011535642.2:c.4398C>T | XP_011533944.1:p.Ser1466= | |
| XM_011535645.2:c.2166C>T | XP_011533947.1:p.Ser722= | |
| XM_017010608.1:c.4398C>T | XP_016866097.1:p.Ser1466= | |
| XM_017010609.1:c.4398C>T | XP_016866098.1:p.Ser1466= | |
| XM_017010610.1:c.4377C>T | XP_016866099.1:p.Ser1459= | |
| XM_017010611.2:c.4371C>T | XP_016866100.1:p.Ser1457= | |
| XM_017010612.1:c.4320C>T | XP_016866101.1:p.Ser1440= | |
| XM_017010613.1:c.4398C>T | XP_016866102.1:p.Ser1466= | |
| XM_017010614.1:c.4398C>T | XP_016866103.1:p.Ser1466= | |
| XM_017010615.1:c.4398C>T | XP_016866104.1:p.Ser1466= | |
| XM_017010616.1:c.4398C>T | XP_016866105.1:p.Ser1466= | |
| XM_017010617.1:c.4398C>T | XP_016866106.1:p.Ser1466= | |
| XM_017010618.1:c.4398C>T | XP_016866107.1:p.Ser1466= | |
| XM_017010619.1:c.2673C>T | XP_016866108.1:p.Ser891= | |
| XR_001743287.1:n.4881C>T | ||
| NM_182961.4:c.4377C>T MANE Select | NP_892006.3:p.Ser1459= | |
| NM_033071.5:c.4398C>T | NP_149062.2:p.Ser1466= |