Linked Data
ClinVar Variation Id:
281233
dbSNP Id:
rs767844376
ExAC:
6:152621819 C / A
gnomAD v2:
6-152621819-C-A
gnomAD v3:
6-152300684-C-A
gnomAD v4:
6-152300684-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152300684C>A , CM000668.2:g.152300684C>A | GRCh38 |
| NC_000006.11:g.152621819C>A , CM000668.1:g.152621819C>A | GRCh37 |
| NC_000006.10:g.152663512C>A | NCBI36 |
| NG_012855.1:g.341716G>T | |
| NG_012855.2:g.341716G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.17639G>T MANE Select | ENSP00000356224.5:p.Arg5880Leu | |
| ENST00000423061.6:c.17426G>T | ENSP00000396024.1:p.Arg5809Leu | |
| ENST00000341594.9:c.16424G>T | ENSP00000341887.6:p.Arg5475Leu | |
| ENST00000367255.9:c.17639G>T | ENSP00000356224.5:p.Arg5880Leu | |
| ENST00000367256.9:n.1331G>T | ||
| ENST00000409694.6:n.1223G>T | ||
| ENST00000423061.5:c.17426G>T | ENSP00000396024.1:p.Arg5809Leu | |
| ENST00000489156.1:n.401+1185G>T | ||
| ENST00000537033.1:c.305G>T | ENSP00000443879.1:p.Arg102Leu | |
| ENST00000540663.5:c.207+1185G>T | ENSP00000437411.1:n.207+1185G>T | |
| NM_033071.3:c.17426G>T | NP_149062.1:p.Arg5809Leu | |
| NM_182961.3:c.17639G>T | NP_892006.3:p.Arg5880Leu | |
| XM_006715407.1:c.17660G>T | XP_006715470.1:p.Arg5887Leu | |
| XM_006715408.1:c.17660G>T | XP_006715471.1:p.Arg5887Leu | |
| XM_006715409.1:c.17639G>T | XP_006715472.1:p.Arg5880Leu | |
| XM_006715410.1:c.17660G>T | XP_006715473.1:p.Arg5887Leu | |
| XM_006715411.1:c.17609G>T | XP_006715474.1:p.Arg5870Leu | |
| XM_006715412.1:c.17660G>T | XP_006715475.1:p.Arg5887Leu | |
| XM_006715413.1:c.17660G>T | XP_006715476.1:p.Arg5887Leu | |
| XM_006715414.1:c.17588G>T | XP_006715477.1:p.Arg5863Leu | |
| XM_006715415.1:c.17660G>T | XP_006715478.1:p.Arg5887Leu | |
| XM_006715416.1:c.17660G>T | XP_006715479.1:p.Arg5887Leu | |
| XM_006715417.1:c.17562+1185G>T | XP_006715480.1:n.17562+1185G>T | |
| XM_006715420.1:c.17562+1185G>T | XP_006715483.1:n.17562+1185G>T | |
| XM_006715421.1:c.17504G>T | XP_006715484.1:p.Arg5835Leu | |
| XM_006715422.1:c.17501G>T | XP_006715485.1:p.Arg5834Leu | |
| XM_006715423.1:c.17660G>T | XP_006715486.1:p.Arg5887Leu | |
| XM_006715424.1:c.17660G>T | XP_006715487.1:p.Arg5887Leu | |
| XM_006715425.1:c.17660G>T | XP_006715488.1:p.Arg5887Leu | |
| XM_011535641.1:c.17660G>T | XP_011533943.1:p.Arg5887Leu | |
| XM_011535642.1:c.17660G>T | XP_011533944.1:p.Arg5887Leu | |
| XM_011535643.1:c.17495G>T | XP_011533945.1:p.Arg5832Leu | |
| XM_011535644.1:c.15935G>T | XP_011533946.1:p.Arg5312Leu | |
| XM_011535645.1:c.15428G>T | XP_011533947.1:p.Arg5143Leu | |
| XM_011535646.1:c.17660G>T | XP_011533948.1:p.Arg5887Leu | |
| XM_011535647.1:c.10895G>T | XP_011533949.1:p.Arg3632Leu | |
| XM_006715408.2:c.17660G>T | XP_006715471.1:p.Arg5887Leu | |
| XM_006715410.2:c.17660G>T | XP_006715473.1:p.Arg5887Leu | |
| XM_006715412.2:c.17660G>T | XP_006715475.1:p.Arg5887Leu | |
| XM_006715413.2:c.17660G>T | XP_006715476.1:p.Arg5887Leu | |
| XM_006715415.2:c.17660G>T | XP_006715478.1:p.Arg5887Leu | |
| XM_006715416.2:c.17660G>T | XP_006715479.1:p.Arg5887Leu | |
| XM_006715417.2:c.17562+1185G>T | XP_006715480.1:n.17562+1185G>T | |
| XM_006715420.2:c.17562+1185G>T | XP_006715483.1:n.17562+1185G>T | |
| XM_006715421.2:c.17504G>T | XP_006715484.1:p.Arg5835Leu | |
| XM_006715423.2:c.17660G>T | XP_006715486.1:p.Arg5887Leu | |
| XM_006715424.2:c.17660G>T | XP_006715487.1:p.Arg5887Leu | |
| XM_006715425.2:c.17660G>T | XP_006715488.1:p.Arg5887Leu | |
| XM_011535641.2:c.17660G>T | XP_011533943.1:p.Arg5887Leu | |
| XM_011535642.2:c.17660G>T | XP_011533944.1:p.Arg5887Leu | |
| XM_011535645.2:c.15428G>T | XP_011533947.1:p.Arg5143Leu | |
| XM_017010608.1:c.17660G>T | XP_016866097.1:p.Arg5887Leu | |
| XM_017010609.1:c.17660G>T | XP_016866098.1:p.Arg5887Leu | |
| XM_017010610.1:c.17639G>T | XP_016866099.1:p.Arg5880Leu | |
| XM_017010611.2:c.17633G>T | XP_016866100.1:p.Arg5878Leu | |
| XM_017010612.1:c.17582G>T | XP_016866101.1:p.Arg5861Leu | |
| XM_017010613.1:c.17660G>T | XP_016866102.1:p.Arg5887Leu | |
| XM_017010614.1:c.17562+1185G>T | XP_016866103.1:n.17562+1185G>T | |
| XM_017010615.1:c.17562+1185G>T | XP_016866104.1:n.17562+1185G>T | |
| XM_017010616.1:c.17660G>T | XP_016866105.1:p.Arg5887Leu | |
| XM_017010617.1:c.17660G>T | XP_016866106.1:p.Arg5887Leu | |
| XM_017010618.1:c.17660G>T | XP_016866107.1:p.Arg5887Leu | |
| XM_017010619.1:c.15935G>T | XP_016866108.1:p.Arg5312Leu | |
| XR_001743287.1:n.18143G>T | ||
| NM_182961.4:c.17639G>T MANE Select | NP_892006.3:p.Arg5880Leu | |
| NM_033071.5:c.17426G>T | NP_149062.2:p.Arg5809Leu |