Linked Data
ClinVar Variation Id:
282129
dbSNP Id:
rs35686213
ExAC:
6:152539515 G / A
gnomAD v2:
6-152539515-G-A
gnomAD v3:
6-152218380-G-A
gnomAD v4:
6-152218380-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152218380G>A , CM000668.2:g.152218380G>A | GRCh38 |
| NC_000006.11:g.152539515G>A , CM000668.1:g.152539515G>A | GRCh37 |
| NC_000006.10:g.152581208G>A | NCBI36 |
| NG_012855.1:g.424020C>T | |
| NG_012855.2:g.424020C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.22068C>T MANE Select | ENSP00000356224.5:p.Thr7356= | |
| ENST00000423061.6:c.21855C>T | ENSP00000396024.1:p.Thr7285= | |
| ENST00000341594.9:c.20853C>T | ENSP00000341887.6:p.Thr6951= | |
| ENST00000367251.7:c.834C>T | ENSP00000356220.3:p.Thr278= | |
| ENST00000367255.9:c.22068C>T | ENSP00000356224.5:p.Thr7356= | |
| ENST00000367256.9:n.5760C>T | ||
| ENST00000367257.8:c.6C>T | ENSP00000356226.4:p.Thr2= | |
| ENST00000409694.6:n.5652C>T | ||
| ENST00000423061.5:c.21855C>T | ENSP00000396024.1:p.Thr7285= | |
| NM_033071.3:c.21855C>T | NP_149062.1:p.Thr7285= | |
| NM_182961.3:c.22068C>T | NP_892006.3:p.Thr7356= | |
| XM_006715407.1:c.22104C>T | XP_006715470.1:p.Thr7368= | |
| XM_006715408.1:c.22092C>T | XP_006715471.1:p.Thr7364= | |
| XM_006715409.1:c.22083C>T | XP_006715472.1:p.Thr7361= | |
| XM_006715410.1:c.22104C>T | XP_006715473.1:p.Thr7368= | |
| XM_006715411.1:c.22053C>T | XP_006715474.1:p.Thr7351= | |
| XM_006715412.1:c.22089C>T | XP_006715475.1:p.Thr7363= | |
| XM_006715413.1:c.22104C>T | XP_006715476.1:p.Thr7368= | |
| XM_006715414.1:c.22032C>T | XP_006715477.1:p.Thr7344= | |
| XM_006715415.1:c.22104C>T | XP_006715478.1:p.Thr7368= | |
| XM_006715416.1:c.22089C>T | XP_006715479.1:p.Thr7363= | |
| XM_006715417.1:c.21963C>T | XP_006715480.1:p.Thr7321= | |
| XM_006715420.1:c.21951C>T | XP_006715483.1:p.Thr7317= | |
| XM_006715421.1:c.21948C>T | XP_006715484.1:p.Thr7316= | |
| XM_006715422.1:c.21945C>T | XP_006715485.1:p.Thr7315= | |
| XM_006715423.1:c.22104C>T | XP_006715486.1:p.Thr7368= | |
| XM_006715424.1:c.22104C>T | XP_006715487.1:p.Thr7368= | |
| XM_006715425.1:c.22104C>T | XP_006715488.1:p.Thr7368= | |
| XM_011535641.1:c.22101C>T | XP_011533943.1:p.Thr7367= | |
| XM_011535642.1:c.22089C>T | XP_011533944.1:p.Thr7363= | |
| XM_011535643.1:c.21939C>T | XP_011533945.1:p.Thr7313= | |
| XM_011535644.1:c.20379C>T | XP_011533946.1:p.Thr6793= | |
| XM_011535645.1:c.19872C>T | XP_011533947.1:p.Thr6624= | |
| XM_011535647.1:c.15339C>T | XP_011533949.1:p.Thr5113= | |
| XM_006715408.2:c.22092C>T | XP_006715471.1:p.Thr7364= | |
| XM_006715410.2:c.22104C>T | XP_006715473.1:p.Thr7368= | |
| XM_006715412.2:c.22089C>T | XP_006715475.1:p.Thr7363= | |
| XM_006715413.2:c.22104C>T | XP_006715476.1:p.Thr7368= | |
| XM_006715415.2:c.22104C>T | XP_006715478.1:p.Thr7368= | |
| XM_006715416.2:c.22089C>T | XP_006715479.1:p.Thr7363= | |
| XM_006715417.2:c.21963C>T | XP_006715480.1:p.Thr7321= | |
| XM_006715420.2:c.21951C>T | XP_006715483.1:p.Thr7317= | |
| XM_006715421.2:c.21948C>T | XP_006715484.1:p.Thr7316= | |
| XM_006715423.2:c.22104C>T | XP_006715486.1:p.Thr7368= | |
| XM_006715424.2:c.22104C>T | XP_006715487.1:p.Thr7368= | |
| XM_006715425.2:c.22104C>T | XP_006715488.1:p.Thr7368= | |
| XM_011535641.2:c.22101C>T | XP_011533943.1:p.Thr7367= | |
| XM_011535642.2:c.22089C>T | XP_011533944.1:p.Thr7363= | |
| XM_011535645.2:c.19872C>T | XP_011533947.1:p.Thr6624= | |
| XM_017010608.1:c.22104C>T | XP_016866097.1:p.Thr7368= | |
| XM_017010609.1:c.22104C>T | XP_016866098.1:p.Thr7368= | |
| XM_017010610.1:c.22083C>T | XP_016866099.1:p.Thr7361= | |
| XM_017010611.2:c.22077C>T | XP_016866100.1:p.Thr7359= | |
| XM_017010612.1:c.22026C>T | XP_016866101.1:p.Thr7342= | |
| XM_017010613.1:c.22101C>T | XP_016866102.1:p.Thr7367= | |
| XM_017010614.1:c.21948C>T | XP_016866103.1:p.Thr7316= | |
| XM_017010615.1:c.21948C>T | XP_016866104.1:p.Thr7316= | |
| XM_017010616.1:c.22104C>T | XP_016866105.1:p.Thr7368= | |
| XM_017010617.1:c.22101C>T | XP_016866106.1:p.Thr7367= | |
| XM_017010618.1:c.22089C>T | XP_016866107.1:p.Thr7363= | |
| XM_017010619.1:c.20379C>T | XP_016866108.1:p.Thr6793= | |
| NM_182961.4:c.22068C>T MANE Select | NP_892006.3:p.Thr7356= | |
| NM_033071.5:c.21855C>T | NP_149062.2:p.Thr7285= |