Linked Data
ClinVar Variation Id:
388578
dbSNP Id:
rs200002217
ExAC:
6:152630997 G / A
gnomAD v2:
6-152630997-G-A
gnomAD v3:
6-152309862-G-A
gnomAD v4:
6-152309862-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152309862G>A , CM000668.2:g.152309862G>A | GRCh38 |
| NC_000006.11:g.152630997G>A , CM000668.1:g.152630997G>A | GRCh37 |
| NC_000006.10:g.152672690G>A | NCBI36 |
| NG_012855.1:g.332538C>T | |
| NG_012855.2:g.332538C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682252.1:n.1246C>T | ||
| ENST00000684208.1:n.1246C>T | ||
| ENST00000684643.1:n.1335C>T | ||
| ENST00000367255.10:c.17175C>T MANE Select | ENSP00000356224.5:p.Thr5725= | |
| ENST00000423061.6:c.16962C>T | ENSP00000396024.1:p.Thr5654= | |
| ENST00000341594.9:c.15960C>T | ENSP00000341887.6:p.Thr5320= | |
| ENST00000367255.9:c.17175C>T | ENSP00000356224.5:p.Thr5725= | |
| ENST00000367256.9:n.867C>T | ||
| ENST00000409694.6:n.759C>T | ||
| ENST00000423061.5:c.16962C>T | ENSP00000396024.1:p.Thr5654= | |
| NM_033071.3:c.16962C>T | NP_149062.1:p.Thr5654= | |
| NM_182961.3:c.17175C>T | NP_892006.3:p.Thr5725= | |
| XM_006715407.1:c.17196C>T | XP_006715470.1:p.Thr5732= | |
| XM_006715408.1:c.17196C>T | XP_006715471.1:p.Thr5732= | |
| XM_006715409.1:c.17175C>T | XP_006715472.1:p.Thr5725= | |
| XM_006715410.1:c.17196C>T | XP_006715473.1:p.Thr5732= | |
| XM_006715411.1:c.17145C>T | XP_006715474.1:p.Thr5715= | |
| XM_006715412.1:c.17196C>T | XP_006715475.1:p.Thr5732= | |
| XM_006715413.1:c.17196C>T | XP_006715476.1:p.Thr5732= | |
| XM_006715414.1:c.17124C>T | XP_006715477.1:p.Thr5708= | |
| XM_006715415.1:c.17196C>T | XP_006715478.1:p.Thr5732= | |
| XM_006715416.1:c.17196C>T | XP_006715479.1:p.Thr5732= | |
| XM_006715417.1:c.17196C>T | XP_006715480.1:p.Thr5732= | |
| XM_006715420.1:c.17196C>T | XP_006715483.1:p.Thr5732= | |
| XM_006715421.1:c.17040C>T | XP_006715484.1:p.Thr5680= | |
| XM_006715422.1:c.17037C>T | XP_006715485.1:p.Thr5679= | |
| XM_006715423.1:c.17196C>T | XP_006715486.1:p.Thr5732= | |
| XM_006715424.1:c.17196C>T | XP_006715487.1:p.Thr5732= | |
| XM_006715425.1:c.17196C>T | XP_006715488.1:p.Thr5732= | |
| XM_011535641.1:c.17196C>T | XP_011533943.1:p.Thr5732= | |
| XM_011535642.1:c.17196C>T | XP_011533944.1:p.Thr5732= | |
| XM_011535643.1:c.17031C>T | XP_011533945.1:p.Thr5677= | |
| XM_011535644.1:c.15471C>T | XP_011533946.1:p.Thr5157= | |
| XM_011535645.1:c.14964C>T | XP_011533947.1:p.Thr4988= | |
| XM_011535646.1:c.17196C>T | XP_011533948.1:p.Thr5732= | |
| XM_011535647.1:c.10431C>T | XP_011533949.1:p.Thr3477= | |
| XM_006715408.2:c.17196C>T | XP_006715471.1:p.Thr5732= | |
| XM_006715410.2:c.17196C>T | XP_006715473.1:p.Thr5732= | |
| XM_006715412.2:c.17196C>T | XP_006715475.1:p.Thr5732= | |
| XM_006715413.2:c.17196C>T | XP_006715476.1:p.Thr5732= | |
| XM_006715415.2:c.17196C>T | XP_006715478.1:p.Thr5732= | |
| XM_006715416.2:c.17196C>T | XP_006715479.1:p.Thr5732= | |
| XM_006715417.2:c.17196C>T | XP_006715480.1:p.Thr5732= | |
| XM_006715420.2:c.17196C>T | XP_006715483.1:p.Thr5732= | |
| XM_006715421.2:c.17040C>T | XP_006715484.1:p.Thr5680= | |
| XM_006715423.2:c.17196C>T | XP_006715486.1:p.Thr5732= | |
| XM_006715424.2:c.17196C>T | XP_006715487.1:p.Thr5732= | |
| XM_006715425.2:c.17196C>T | XP_006715488.1:p.Thr5732= | |
| XM_011535641.2:c.17196C>T | XP_011533943.1:p.Thr5732= | |
| XM_011535642.2:c.17196C>T | XP_011533944.1:p.Thr5732= | |
| XM_011535645.2:c.14964C>T | XP_011533947.1:p.Thr4988= | |
| XM_017010608.1:c.17196C>T | XP_016866097.1:p.Thr5732= | |
| XM_017010609.1:c.17196C>T | XP_016866098.1:p.Thr5732= | |
| XM_017010610.1:c.17175C>T | XP_016866099.1:p.Thr5725= | |
| XM_017010611.2:c.17169C>T | XP_016866100.1:p.Thr5723= | |
| XM_017010612.1:c.17118C>T | XP_016866101.1:p.Thr5706= | |
| XM_017010613.1:c.17196C>T | XP_016866102.1:p.Thr5732= | |
| XM_017010614.1:c.17196C>T | XP_016866103.1:p.Thr5732= | |
| XM_017010615.1:c.17196C>T | XP_016866104.1:p.Thr5732= | |
| XM_017010616.1:c.17196C>T | XP_016866105.1:p.Thr5732= | |
| XM_017010617.1:c.17196C>T | XP_016866106.1:p.Thr5732= | |
| XM_017010618.1:c.17196C>T | XP_016866107.1:p.Thr5732= | |
| XM_017010619.1:c.15471C>T | XP_016866108.1:p.Thr5157= | |
| XR_001743287.1:n.17679C>T | ||
| NM_182961.4:c.17175C>T MANE Select | NP_892006.3:p.Thr5725= | |
| NM_033071.5:c.16962C>T | NP_149062.2:p.Thr5654= |