Linked Data
ClinVar Variation Id:
286575
dbSNP Id:
rs780644969
ExAC:
6:152570314 G / A
gnomAD v2:
6-152570314-G-A
gnomAD v3:
6-152249179-G-A
gnomAD v4:
6-152249179-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152249179G>A , CM000668.2:g.152249179G>A | GRCh38 |
| NC_000006.11:g.152570314G>A , CM000668.1:g.152570314G>A | GRCh37 |
| NC_000006.10:g.152612007G>A | NCBI36 |
| NG_012855.1:g.393221C>T | |
| NG_012855.2:g.393221C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.19554C>T MANE Select | ENSP00000356224.5:p.Pro6518= | |
| ENST00000423061.6:c.19341C>T | ENSP00000396024.1:p.Pro6447= | |
| ENST00000341594.9:c.18339C>T | ENSP00000341887.6:p.Pro6113= | |
| ENST00000367255.9:c.19554C>T | ENSP00000356224.5:p.Pro6518= | |
| ENST00000367256.9:n.3246C>T | ||
| ENST00000409694.6:n.3138C>T | ||
| ENST00000423061.5:c.19341C>T | ENSP00000396024.1:p.Pro6447= | |
| NM_033071.3:c.19341C>T | NP_149062.1:p.Pro6447= | |
| NM_182961.3:c.19554C>T | NP_892006.3:p.Pro6518= | |
| XM_006715407.1:c.19590C>T | XP_006715470.1:p.Pro6530= | |
| XM_006715408.1:c.19578C>T | XP_006715471.1:p.Pro6526= | |
| XM_006715409.1:c.19569C>T | XP_006715472.1:p.Pro6523= | |
| XM_006715410.1:c.19590C>T | XP_006715473.1:p.Pro6530= | |
| XM_006715411.1:c.19539C>T | XP_006715474.1:p.Pro6513= | |
| XM_006715412.1:c.19575C>T | XP_006715475.1:p.Pro6525= | |
| XM_006715413.1:c.19590C>T | XP_006715476.1:p.Pro6530= | |
| XM_006715414.1:c.19518C>T | XP_006715477.1:p.Pro6506= | |
| XM_006715415.1:c.19590C>T | XP_006715478.1:p.Pro6530= | |
| XM_006715416.1:c.19575C>T | XP_006715479.1:p.Pro6525= | |
| XM_006715417.1:c.19449C>T | XP_006715480.1:p.Pro6483= | |
| XM_006715420.1:c.19437C>T | XP_006715483.1:p.Pro6479= | |
| XM_006715421.1:c.19434C>T | XP_006715484.1:p.Pro6478= | |
| XM_006715422.1:c.19431C>T | XP_006715485.1:p.Pro6477= | |
| XM_006715423.1:c.19590C>T | XP_006715486.1:p.Pro6530= | |
| XM_006715424.1:c.19590C>T | XP_006715487.1:p.Pro6530= | |
| XM_006715425.1:c.19590C>T | XP_006715488.1:p.Pro6530= | |
| XM_011535641.1:c.19587C>T | XP_011533943.1:p.Pro6529= | |
| XM_011535642.1:c.19575C>T | XP_011533944.1:p.Pro6525= | |
| XM_011535643.1:c.19425C>T | XP_011533945.1:p.Pro6475= | |
| XM_011535644.1:c.17865C>T | XP_011533946.1:p.Pro5955= | |
| XM_011535645.1:c.17358C>T | XP_011533947.1:p.Pro5786= | |
| XM_011535646.1:c.19590C>T | XP_011533948.1:p.Pro6530= | |
| XM_011535647.1:c.12825C>T | XP_011533949.1:p.Pro4275= | |
| XM_006715408.2:c.19578C>T | XP_006715471.1:p.Pro6526= | |
| XM_006715410.2:c.19590C>T | XP_006715473.1:p.Pro6530= | |
| XM_006715412.2:c.19575C>T | XP_006715475.1:p.Pro6525= | |
| XM_006715413.2:c.19590C>T | XP_006715476.1:p.Pro6530= | |
| XM_006715415.2:c.19590C>T | XP_006715478.1:p.Pro6530= | |
| XM_006715416.2:c.19575C>T | XP_006715479.1:p.Pro6525= | |
| XM_006715417.2:c.19449C>T | XP_006715480.1:p.Pro6483= | |
| XM_006715420.2:c.19437C>T | XP_006715483.1:p.Pro6479= | |
| XM_006715421.2:c.19434C>T | XP_006715484.1:p.Pro6478= | |
| XM_006715423.2:c.19590C>T | XP_006715486.1:p.Pro6530= | |
| XM_006715424.2:c.19590C>T | XP_006715487.1:p.Pro6530= | |
| XM_006715425.2:c.19590C>T | XP_006715488.1:p.Pro6530= | |
| XM_011535641.2:c.19587C>T | XP_011533943.1:p.Pro6529= | |
| XM_011535642.2:c.19575C>T | XP_011533944.1:p.Pro6525= | |
| XM_011535645.2:c.17358C>T | XP_011533947.1:p.Pro5786= | |
| XM_017010608.1:c.19590C>T | XP_016866097.1:p.Pro6530= | |
| XM_017010609.1:c.19590C>T | XP_016866098.1:p.Pro6530= | |
| XM_017010610.1:c.19569C>T | XP_016866099.1:p.Pro6523= | |
| XM_017010611.2:c.19563C>T | XP_016866100.1:p.Pro6521= | |
| XM_017010612.1:c.19512C>T | XP_016866101.1:p.Pro6504= | |
| XM_017010613.1:c.19587C>T | XP_016866102.1:p.Pro6529= | |
| XM_017010614.1:c.19434C>T | XP_016866103.1:p.Pro6478= | |
| XM_017010615.1:c.19434C>T | XP_016866104.1:p.Pro6478= | |
| XM_017010616.1:c.19590C>T | XP_016866105.1:p.Pro6530= | |
| XM_017010617.1:c.19587C>T | XP_016866106.1:p.Pro6529= | |
| XM_017010618.1:c.19575C>T | XP_016866107.1:p.Pro6525= | |
| XM_017010619.1:c.17865C>T | XP_016866108.1:p.Pro5955= | |
| XR_001743287.1:n.20073C>T | ||
| NM_182961.4:c.19554C>T MANE Select | NP_892006.3:p.Pro6518= | |
| NM_033071.5:c.19341C>T | NP_149062.2:p.Pro6447= |