Linked Data
ClinVar Variation Id:
282193
dbSNP Id:
rs142251671
ExAC:
6:152599317 G / A
gnomAD v2:
6-152599317-G-A
gnomAD v3:
6-152278182-G-A
gnomAD v4:
6-152278182-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152278182G>A , CM000668.2:g.152278182G>A | GRCh38 |
| NC_000006.11:g.152599317G>A , CM000668.1:g.152599317G>A | GRCh37 |
| NC_000006.10:g.152641010G>A | NCBI36 |
| NG_012855.1:g.364218C>T | |
| NG_012855.2:g.364218C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.18480C>T MANE Select | ENSP00000356224.5:p.Asp6160= | |
| ENST00000423061.6:c.18267C>T | ENSP00000396024.1:p.Asp6089= | |
| ENST00000341594.9:c.17265C>T | ENSP00000341887.6:p.Asp5755= | |
| ENST00000367255.9:c.18480C>T | ENSP00000356224.5:p.Asp6160= | |
| ENST00000367256.9:n.2172C>T | ||
| ENST00000409694.6:n.2064C>T | ||
| ENST00000423061.5:c.18267C>T | ENSP00000396024.1:p.Asp6089= | |
| ENST00000488376.2:n.335C>T | ||
| ENST00000489156.1:n.1211C>T | ||
| NM_033071.3:c.18267C>T | NP_149062.1:p.Asp6089= | |
| NM_182961.3:c.18480C>T | NP_892006.3:p.Asp6160= | |
| XM_006715407.1:c.18513C>T | XP_006715470.1:p.Asp6171= | |
| XM_006715408.1:c.18501C>T | XP_006715471.1:p.Asp6167= | |
| XM_006715409.1:c.18492C>T | XP_006715472.1:p.Asp6164= | |
| XM_006715410.1:c.18513C>T | XP_006715473.1:p.Asp6171= | |
| XM_006715411.1:c.18462C>T | XP_006715474.1:p.Asp6154= | |
| XM_006715412.1:c.18501C>T | XP_006715475.1:p.Asp6167= | |
| XM_006715413.1:c.18513C>T | XP_006715476.1:p.Asp6171= | |
| XM_006715414.1:c.18441C>T | XP_006715477.1:p.Asp6147= | |
| XM_006715415.1:c.18513C>T | XP_006715478.1:p.Asp6171= | |
| XM_006715416.1:c.18501C>T | XP_006715479.1:p.Asp6167= | |
| XM_006715417.1:c.18372C>T | XP_006715480.1:p.Asp6124= | |
| XM_006715420.1:c.18360C>T | XP_006715483.1:p.Asp6120= | |
| XM_006715421.1:c.18357C>T | XP_006715484.1:p.Asp6119= | |
| XM_006715422.1:c.18354C>T | XP_006715485.1:p.Asp6118= | |
| XM_006715423.1:c.18513C>T | XP_006715486.1:p.Asp6171= | |
| XM_006715424.1:c.18513C>T | XP_006715487.1:p.Asp6171= | |
| XM_006715425.1:c.18513C>T | XP_006715488.1:p.Asp6171= | |
| XM_011535641.1:c.18513C>T | XP_011533943.1:p.Asp6171= | |
| XM_011535642.1:c.18501C>T | XP_011533944.1:p.Asp6167= | |
| XM_011535643.1:c.18348C>T | XP_011533945.1:p.Asp6116= | |
| XM_011535644.1:c.16788C>T | XP_011533946.1:p.Asp5596= | |
| XM_011535645.1:c.16281C>T | XP_011533947.1:p.Asp5427= | |
| XM_011535646.1:c.18513C>T | XP_011533948.1:p.Asp6171= | |
| XM_011535647.1:c.11748C>T | XP_011533949.1:p.Asp3916= | |
| XM_006715408.2:c.18501C>T | XP_006715471.1:p.Asp6167= | |
| XM_006715410.2:c.18513C>T | XP_006715473.1:p.Asp6171= | |
| XM_006715412.2:c.18501C>T | XP_006715475.1:p.Asp6167= | |
| XM_006715413.2:c.18513C>T | XP_006715476.1:p.Asp6171= | |
| XM_006715415.2:c.18513C>T | XP_006715478.1:p.Asp6171= | |
| XM_006715416.2:c.18501C>T | XP_006715479.1:p.Asp6167= | |
| XM_006715417.2:c.18372C>T | XP_006715480.1:p.Asp6124= | |
| XM_006715420.2:c.18360C>T | XP_006715483.1:p.Asp6120= | |
| XM_006715421.2:c.18357C>T | XP_006715484.1:p.Asp6119= | |
| XM_006715423.2:c.18513C>T | XP_006715486.1:p.Asp6171= | |
| XM_006715424.2:c.18513C>T | XP_006715487.1:p.Asp6171= | |
| XM_006715425.2:c.18513C>T | XP_006715488.1:p.Asp6171= | |
| XM_011535641.2:c.18513C>T | XP_011533943.1:p.Asp6171= | |
| XM_011535642.2:c.18501C>T | XP_011533944.1:p.Asp6167= | |
| XM_011535645.2:c.16281C>T | XP_011533947.1:p.Asp5427= | |
| XM_017010608.1:c.18513C>T | XP_016866097.1:p.Asp6171= | |
| XM_017010609.1:c.18513C>T | XP_016866098.1:p.Asp6171= | |
| XM_017010610.1:c.18492C>T | XP_016866099.1:p.Asp6164= | |
| XM_017010611.2:c.18486C>T | XP_016866100.1:p.Asp6162= | |
| XM_017010612.1:c.18435C>T | XP_016866101.1:p.Asp6145= | |
| XM_017010613.1:c.18513C>T | XP_016866102.1:p.Asp6171= | |
| XM_017010614.1:c.18360C>T | XP_016866103.1:p.Asp6120= | |
| XM_017010615.1:c.18360C>T | XP_016866104.1:p.Asp6120= | |
| XM_017010616.1:c.18513C>T | XP_016866105.1:p.Asp6171= | |
| XM_017010617.1:c.18513C>T | XP_016866106.1:p.Asp6171= | |
| XM_017010618.1:c.18501C>T | XP_016866107.1:p.Asp6167= | |
| XM_017010619.1:c.16788C>T | XP_016866108.1:p.Asp5596= | |
| XR_001743287.1:n.18996C>T | ||
| NM_182961.4:c.18480C>T MANE Select | NP_892006.3:p.Asp6160= | |
| NM_033071.5:c.18267C>T | NP_149062.2:p.Asp6089= |