Linked Data
ClinVar Variation Id:
285689
dbSNP Id:
rs371609288
ExAC:
6:152725449 A / T
gnomAD v2:
6-152725449-A-T
gnomAD v3:
6-152404314-A-T
gnomAD v4:
6-152404314-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152404314A>T , CM000668.2:g.152404314A>T | GRCh38 |
| NC_000006.11:g.152725449A>T , CM000668.1:g.152725449A>T | GRCh37 |
| NC_000006.10:g.152767142A>T | NCBI36 |
| NG_012855.1:g.238086T>A | |
| NG_012855.2:g.238086T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.6724T>A MANE Select | ENSP00000356224.5:p.Ser2242Thr | |
| ENST00000423061.6:c.6745T>A | ENSP00000396024.1:p.Ser2249Thr | |
| ENST00000341594.9:c.6784T>A | ENSP00000341887.6:p.Ser2262Thr | |
| ENST00000367255.9:c.6724T>A | ENSP00000356224.5:p.Ser2242Thr | |
| ENST00000423061.5:c.6745T>A | ENSP00000396024.1:p.Ser2249Thr | |
| ENST00000461872.6:n.6942T>A | ||
| ENST00000535081.1:n.421T>A | ||
| NM_033071.3:c.6745T>A | NP_149062.1:p.Ser2249Thr | |
| NM_182961.3:c.6724T>A | NP_892006.3:p.Ser2242Thr | |
| XM_006715407.1:c.6745T>A | XP_006715470.1:p.Ser2249Thr | |
| XM_006715408.1:c.6745T>A | XP_006715471.1:p.Ser2249Thr | |
| XM_006715409.1:c.6724T>A | XP_006715472.1:p.Ser2242Thr | |
| XM_006715410.1:c.6745T>A | XP_006715473.1:p.Ser2249Thr | |
| XM_006715411.1:c.6694T>A | XP_006715474.1:p.Ser2232Thr | |
| XM_006715412.1:c.6745T>A | XP_006715475.1:p.Ser2249Thr | |
| XM_006715413.1:c.6745T>A | XP_006715476.1:p.Ser2249Thr | |
| XM_006715414.1:c.6673T>A | XP_006715477.1:p.Ser2225Thr | |
| XM_006715415.1:c.6745T>A | XP_006715478.1:p.Ser2249Thr | |
| XM_006715416.1:c.6745T>A | XP_006715479.1:p.Ser2249Thr | |
| XM_006715417.1:c.6745T>A | XP_006715480.1:p.Ser2249Thr | |
| XM_006715420.1:c.6745T>A | XP_006715483.1:p.Ser2249Thr | |
| XM_006715421.1:c.6745T>A | XP_006715484.1:p.Ser2249Thr | |
| XM_006715422.1:c.6586T>A | XP_006715485.1:p.Ser2196Thr | |
| XM_006715423.1:c.6745T>A | XP_006715486.1:p.Ser2249Thr | |
| XM_006715424.1:c.6745T>A | XP_006715487.1:p.Ser2249Thr | |
| XM_006715425.1:c.6745T>A | XP_006715488.1:p.Ser2249Thr | |
| XM_011535641.1:c.6745T>A | XP_011533943.1:p.Ser2249Thr | |
| XM_011535642.1:c.6745T>A | XP_011533944.1:p.Ser2249Thr | |
| XM_011535643.1:c.6580T>A | XP_011533945.1:p.Ser2194Thr | |
| XM_011535644.1:c.5020T>A | XP_011533946.1:p.Ser1674Thr | |
| XM_011535645.1:c.4513T>A | XP_011533947.1:p.Ser1505Thr | |
| XM_011535646.1:c.6745T>A | XP_011533948.1:p.Ser2249Thr | |
| XM_006715408.2:c.6745T>A | XP_006715471.1:p.Ser2249Thr | |
| XM_006715410.2:c.6745T>A | XP_006715473.1:p.Ser2249Thr | |
| XM_006715412.2:c.6745T>A | XP_006715475.1:p.Ser2249Thr | |
| XM_006715413.2:c.6745T>A | XP_006715476.1:p.Ser2249Thr | |
| XM_006715415.2:c.6745T>A | XP_006715478.1:p.Ser2249Thr | |
| XM_006715416.2:c.6745T>A | XP_006715479.1:p.Ser2249Thr | |
| XM_006715417.2:c.6745T>A | XP_006715480.1:p.Ser2249Thr | |
| XM_006715420.2:c.6745T>A | XP_006715483.1:p.Ser2249Thr | |
| XM_006715421.2:c.6745T>A | XP_006715484.1:p.Ser2249Thr | |
| XM_006715423.2:c.6745T>A | XP_006715486.1:p.Ser2249Thr | |
| XM_006715424.2:c.6745T>A | XP_006715487.1:p.Ser2249Thr | |
| XM_006715425.2:c.6745T>A | XP_006715488.1:p.Ser2249Thr | |
| XM_011535641.2:c.6745T>A | XP_011533943.1:p.Ser2249Thr | |
| XM_011535642.2:c.6745T>A | XP_011533944.1:p.Ser2249Thr | |
| XM_011535645.2:c.4513T>A | XP_011533947.1:p.Ser1505Thr | |
| XM_017010608.1:c.6745T>A | XP_016866097.1:p.Ser2249Thr | |
| XM_017010609.1:c.6745T>A | XP_016866098.1:p.Ser2249Thr | |
| XM_017010610.1:c.6724T>A | XP_016866099.1:p.Ser2242Thr | |
| XM_017010611.2:c.6718T>A | XP_016866100.1:p.Ser2240Thr | |
| XM_017010612.1:c.6667T>A | XP_016866101.1:p.Ser2223Thr | |
| XM_017010613.1:c.6745T>A | XP_016866102.1:p.Ser2249Thr | |
| XM_017010614.1:c.6745T>A | XP_016866103.1:p.Ser2249Thr | |
| XM_017010615.1:c.6745T>A | XP_016866104.1:p.Ser2249Thr | |
| XM_017010616.1:c.6745T>A | XP_016866105.1:p.Ser2249Thr | |
| XM_017010617.1:c.6745T>A | XP_016866106.1:p.Ser2249Thr | |
| XM_017010618.1:c.6745T>A | XP_016866107.1:p.Ser2249Thr | |
| XM_017010619.1:c.5020T>A | XP_016866108.1:p.Ser1674Thr | |
| XR_001743287.1:n.7228T>A | ||
| NM_182961.4:c.6724T>A MANE Select | NP_892006.3:p.Ser2242Thr | |
| NM_033071.5:c.6745T>A | NP_149062.2:p.Ser2249Thr |