Linked Data
ClinVar Variation Id:
193777
ClinVar RCV Id:
RCV000202692
RCV000713621
RCV000813932
RCV001152070
RCV001152071
RCV002516606
RCV004535192
dbSNP Id:
rs147143947
ExAC:
6:152565729 C / A
gnomAD v2:
6-152565729-C-A
gnomAD v3:
6-152244594-C-A
gnomAD v4:
6-152244594-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152244594C>A , CM000668.2:g.152244594C>A | GRCh38 |
| NC_000006.11:g.152565729C>A , CM000668.1:g.152565729C>A | GRCh37 |
| NC_000006.10:g.152607422C>A | NCBI36 |
| NG_012855.1:g.397806G>T | |
| NG_012855.2:g.397806G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.19635G>T MANE Select | ENSP00000356224.5:p.Arg6545Ser | |
| ENST00000423061.6:c.19422G>T | ENSP00000396024.1:p.Arg6474Ser | |
| ENST00000341594.9:c.18420G>T | ENSP00000341887.6:p.Arg6140Ser | |
| ENST00000367255.9:c.19635G>T | ENSP00000356224.5:p.Arg6545Ser | |
| ENST00000367256.9:n.3327G>T | ||
| ENST00000409694.6:n.3219G>T | ||
| ENST00000423061.5:c.19422G>T | ENSP00000396024.1:p.Arg6474Ser | |
| NM_033071.3:c.19422G>T | NP_149062.1:p.Arg6474Ser | |
| NM_182961.3:c.19635G>T | NP_892006.3:p.Arg6545Ser | |
| XM_006715407.1:c.19671G>T | XP_006715470.1:p.Arg6557Ser | |
| XM_006715408.1:c.19659G>T | XP_006715471.1:p.Arg6553Ser | |
| XM_006715409.1:c.19650G>T | XP_006715472.1:p.Arg6550Ser | |
| XM_006715410.1:c.19671G>T | XP_006715473.1:p.Arg6557Ser | |
| XM_006715411.1:c.19620G>T | XP_006715474.1:p.Arg6540Ser | |
| XM_006715412.1:c.19656G>T | XP_006715475.1:p.Arg6552Ser | |
| XM_006715413.1:c.19671G>T | XP_006715476.1:p.Arg6557Ser | |
| XM_006715414.1:c.19599G>T | XP_006715477.1:p.Arg6533Ser | |
| XM_006715415.1:c.19671G>T | XP_006715478.1:p.Arg6557Ser | |
| XM_006715416.1:c.19656G>T | XP_006715479.1:p.Arg6552Ser | |
| XM_006715417.1:c.19530G>T | XP_006715480.1:p.Arg6510Ser | |
| XM_006715420.1:c.19518G>T | XP_006715483.1:p.Arg6506Ser | |
| XM_006715421.1:c.19515G>T | XP_006715484.1:p.Arg6505Ser | |
| XM_006715422.1:c.19512G>T | XP_006715485.1:p.Arg6504Ser | |
| XM_006715423.1:c.19671G>T | XP_006715486.1:p.Arg6557Ser | |
| XM_006715424.1:c.19671G>T | XP_006715487.1:p.Arg6557Ser | |
| XM_006715425.1:c.19671G>T | XP_006715488.1:p.Arg6557Ser | |
| XM_011535641.1:c.19668G>T | XP_011533943.1:p.Arg6556Ser | |
| XM_011535642.1:c.19656G>T | XP_011533944.1:p.Arg6552Ser | |
| XM_011535643.1:c.19506G>T | XP_011533945.1:p.Arg6502Ser | |
| XM_011535644.1:c.17946G>T | XP_011533946.1:p.Arg5982Ser | |
| XM_011535645.1:c.17439G>T | XP_011533947.1:p.Arg5813Ser | |
| XM_011535646.1:c.19671G>T | XP_011533948.1:p.Arg6557Ser | |
| XM_011535647.1:c.12906G>T | XP_011533949.1:p.Arg4302Ser | |
| XM_006715408.2:c.19659G>T | XP_006715471.1:p.Arg6553Ser | |
| XM_006715410.2:c.19671G>T | XP_006715473.1:p.Arg6557Ser | |
| XM_006715412.2:c.19656G>T | XP_006715475.1:p.Arg6552Ser | |
| XM_006715413.2:c.19671G>T | XP_006715476.1:p.Arg6557Ser | |
| XM_006715415.2:c.19671G>T | XP_006715478.1:p.Arg6557Ser | |
| XM_006715416.2:c.19656G>T | XP_006715479.1:p.Arg6552Ser | |
| XM_006715417.2:c.19530G>T | XP_006715480.1:p.Arg6510Ser | |
| XM_006715420.2:c.19518G>T | XP_006715483.1:p.Arg6506Ser | |
| XM_006715421.2:c.19515G>T | XP_006715484.1:p.Arg6505Ser | |
| XM_006715423.2:c.19671G>T | XP_006715486.1:p.Arg6557Ser | |
| XM_006715424.2:c.19671G>T | XP_006715487.1:p.Arg6557Ser | |
| XM_006715425.2:c.19671G>T | XP_006715488.1:p.Arg6557Ser | |
| XM_011535641.2:c.19668G>T | XP_011533943.1:p.Arg6556Ser | |
| XM_011535642.2:c.19656G>T | XP_011533944.1:p.Arg6552Ser | |
| XM_011535645.2:c.17439G>T | XP_011533947.1:p.Arg5813Ser | |
| XM_017010608.1:c.19671G>T | XP_016866097.1:p.Arg6557Ser | |
| XM_017010609.1:c.19671G>T | XP_016866098.1:p.Arg6557Ser | |
| XM_017010610.1:c.19650G>T | XP_016866099.1:p.Arg6550Ser | |
| XM_017010611.2:c.19644G>T | XP_016866100.1:p.Arg6548Ser | |
| XM_017010612.1:c.19593G>T | XP_016866101.1:p.Arg6531Ser | |
| XM_017010613.1:c.19668G>T | XP_016866102.1:p.Arg6556Ser | |
| XM_017010614.1:c.19515G>T | XP_016866103.1:p.Arg6505Ser | |
| XM_017010615.1:c.19515G>T | XP_016866104.1:p.Arg6505Ser | |
| XM_017010616.1:c.19671G>T | XP_016866105.1:p.Arg6557Ser | |
| XM_017010617.1:c.19668G>T | XP_016866106.1:p.Arg6556Ser | |
| XM_017010618.1:c.19656G>T | XP_016866107.1:p.Arg6552Ser | |
| XM_017010619.1:c.17946G>T | XP_016866108.1:p.Arg5982Ser | |
| XR_001743287.1:n.20154G>T | ||
| NM_182961.4:c.19635G>T MANE Select | NP_892006.3:p.Arg6545Ser | |
| NM_033071.5:c.19422G>T | NP_149062.2:p.Arg6474Ser |