Linked Data
ClinVar Variation Id:
286593
dbSNP Id:
rs756713928
ExAC:
6:152768605 C / T
gnomAD v2:
6-152768605-C-T
gnomAD v3:
6-152447470-C-T
gnomAD v4:
6-152447470-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152447470C>T , CM000668.2:g.152447470C>T | GRCh38 |
| NC_000006.11:g.152768605C>T , CM000668.1:g.152768605C>T | GRCh37 |
| NC_000006.10:g.152810298C>T | NCBI36 |
| NG_012855.1:g.194930G>A | |
| NG_012855.2:g.194930G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.3657G>A MANE Select | ENSP00000356224.5:p.Thr1219= | |
| ENST00000423061.6:c.3678G>A | ENSP00000396024.1:p.Thr1226= | |
| ENST00000671915.1:c.954G>A | ENSP00000500319.1:p.Thr318= | |
| ENST00000672122.1:c.3600G>A | ENSP00000500559.1:p.Thr1200= | |
| ENST00000673163.1:c.*3627G>A | ENSP00000499934.1:n.*3627G>A | |
| ENST00000673281.1:c.3651G>A | ENSP00000500893.1:p.Thr1217= | |
| ENST00000341594.9:c.3804G>A | ENSP00000341887.6:p.Thr1268= | |
| ENST00000367248.7:c.3627G>A | ENSP00000356217.3:p.Thr1209= | |
| ENST00000367253.8:c.3657G>A | ENSP00000356222.4:p.Thr1219= | |
| ENST00000367255.9:c.3657G>A | ENSP00000356224.5:p.Thr1219= | |
| ENST00000413186.6:c.3657G>A | ENSP00000414510.2:p.Thr1219= | |
| ENST00000423061.5:c.3678G>A | ENSP00000396024.1:p.Thr1226= | |
| ENST00000461872.6:n.3875G>A | ||
| NM_033071.3:c.3678G>A | NP_149062.1:p.Thr1226= | |
| NM_182961.3:c.3657G>A | NP_892006.3:p.Thr1219= | |
| XM_006715407.1:c.3678G>A | XP_006715470.1:p.Thr1226= | |
| XM_006715408.1:c.3678G>A | XP_006715471.1:p.Thr1226= | |
| XM_006715409.1:c.3657G>A | XP_006715472.1:p.Thr1219= | |
| XM_006715410.1:c.3678G>A | XP_006715473.1:p.Thr1226= | |
| XM_006715411.1:c.3627G>A | XP_006715474.1:p.Thr1209= | |
| XM_006715412.1:c.3678G>A | XP_006715475.1:p.Thr1226= | |
| XM_006715413.1:c.3678G>A | XP_006715476.1:p.Thr1226= | |
| XM_006715414.1:c.3606G>A | XP_006715477.1:p.Thr1202= | |
| XM_006715415.1:c.3678G>A | XP_006715478.1:p.Thr1226= | |
| XM_006715416.1:c.3678G>A | XP_006715479.1:p.Thr1226= | |
| XM_006715417.1:c.3678G>A | XP_006715480.1:p.Thr1226= | |
| XM_006715420.1:c.3678G>A | XP_006715483.1:p.Thr1226= | |
| XM_006715421.1:c.3678G>A | XP_006715484.1:p.Thr1226= | |
| XM_006715422.1:c.3519G>A | XP_006715485.1:p.Thr1173= | |
| XM_006715423.1:c.3678G>A | XP_006715486.1:p.Thr1226= | |
| XM_006715424.1:c.3678G>A | XP_006715487.1:p.Thr1226= | |
| XM_006715425.1:c.3678G>A | XP_006715488.1:p.Thr1226= | |
| XM_011535641.1:c.3678G>A | XP_011533943.1:p.Thr1226= | |
| XM_011535642.1:c.3678G>A | XP_011533944.1:p.Thr1226= | |
| XM_011535643.1:c.3513G>A | XP_011533945.1:p.Thr1171= | |
| XM_011535644.1:c.1953G>A | XP_011533946.1:p.Thr651= | |
| XM_011535645.1:c.1446G>A | XP_011533947.1:p.Thr482= | |
| XM_011535646.1:c.3678G>A | XP_011533948.1:p.Thr1226= | |
| XM_006715408.2:c.3678G>A | XP_006715471.1:p.Thr1226= | |
| XM_006715410.2:c.3678G>A | XP_006715473.1:p.Thr1226= | |
| XM_006715412.2:c.3678G>A | XP_006715475.1:p.Thr1226= | |
| XM_006715413.2:c.3678G>A | XP_006715476.1:p.Thr1226= | |
| XM_006715415.2:c.3678G>A | XP_006715478.1:p.Thr1226= | |
| XM_006715416.2:c.3678G>A | XP_006715479.1:p.Thr1226= | |
| XM_006715417.2:c.3678G>A | XP_006715480.1:p.Thr1226= | |
| XM_006715420.2:c.3678G>A | XP_006715483.1:p.Thr1226= | |
| XM_006715421.2:c.3678G>A | XP_006715484.1:p.Thr1226= | |
| XM_006715423.2:c.3678G>A | XP_006715486.1:p.Thr1226= | |
| XM_006715424.2:c.3678G>A | XP_006715487.1:p.Thr1226= | |
| XM_006715425.2:c.3678G>A | XP_006715488.1:p.Thr1226= | |
| XM_011535641.2:c.3678G>A | XP_011533943.1:p.Thr1226= | |
| XM_011535642.2:c.3678G>A | XP_011533944.1:p.Thr1226= | |
| XM_011535645.2:c.1446G>A | XP_011533947.1:p.Thr482= | |
| XM_017010608.1:c.3678G>A | XP_016866097.1:p.Thr1226= | |
| XM_017010609.1:c.3678G>A | XP_016866098.1:p.Thr1226= | |
| XM_017010610.1:c.3657G>A | XP_016866099.1:p.Thr1219= | |
| XM_017010611.2:c.3651G>A | XP_016866100.1:p.Thr1217= | |
| XM_017010612.1:c.3600G>A | XP_016866101.1:p.Thr1200= | |
| XM_017010613.1:c.3678G>A | XP_016866102.1:p.Thr1226= | |
| XM_017010614.1:c.3678G>A | XP_016866103.1:p.Thr1226= | |
| XM_017010615.1:c.3678G>A | XP_016866104.1:p.Thr1226= | |
| XM_017010616.1:c.3678G>A | XP_016866105.1:p.Thr1226= | |
| XM_017010617.1:c.3678G>A | XP_016866106.1:p.Thr1226= | |
| XM_017010618.1:c.3678G>A | XP_016866107.1:p.Thr1226= | |
| XM_017010619.1:c.1953G>A | XP_016866108.1:p.Thr651= | |
| XR_001743287.1:n.4161G>A | ||
| NM_182961.4:c.3657G>A MANE Select | NP_892006.3:p.Thr1219= | |
| NM_033071.5:c.3678G>A | NP_149062.2:p.Thr1226= |