Linked Data
ClinVar Variation Id:
288950
dbSNP Id:
rs779555194
ExAC:
6:152532661 T / C
gnomAD v2:
6-152532661-T-C
gnomAD v3:
6-152211526-T-C
gnomAD v4:
6-152211526-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152211526T>C , CM000668.2:g.152211526T>C | GRCh38 |
| NC_000006.11:g.152532661T>C , CM000668.1:g.152532661T>C | GRCh37 |
| NC_000006.10:g.152574354T>C | NCBI36 |
| NG_012855.1:g.430874A>G | |
| NG_012855.2:g.430874A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.22557A>G MANE Select | ENSP00000356224.5:p.Gln7519= | |
| ENST00000423061.6:c.22344A>G | ENSP00000396024.1:p.Gln7448= | |
| ENST00000341594.9:c.21342A>G | ENSP00000341887.6:p.Gln7114= | |
| ENST00000367251.7:c.1323A>G | ENSP00000356220.3:p.Gln441= | |
| ENST00000367255.9:c.22557A>G | ENSP00000356224.5:p.Gln7519= | |
| ENST00000367256.9:n.6249A>G | ||
| ENST00000367257.8:c.495A>G | ENSP00000356226.4:p.Gln165= | |
| ENST00000409694.6:n.6141A>G | ||
| ENST00000423061.5:c.22344A>G | ENSP00000396024.1:p.Gln7448= | |
| NM_033071.3:c.22344A>G | NP_149062.1:p.Gln7448= | |
| NM_182961.3:c.22557A>G | NP_892006.3:p.Gln7519= | |
| XM_006715407.1:c.22593A>G | XP_006715470.1:p.Gln7531= | |
| XM_006715408.1:c.22581A>G | XP_006715471.1:p.Gln7527= | |
| XM_006715409.1:c.22572A>G | XP_006715472.1:p.Gln7524= | |
| XM_006715410.1:c.22593A>G | XP_006715473.1:p.Gln7531= | |
| XM_006715411.1:c.22542A>G | XP_006715474.1:p.Gln7514= | |
| XM_006715412.1:c.22578A>G | XP_006715475.1:p.Gln7526= | |
| XM_006715413.1:c.22593A>G | XP_006715476.1:p.Gln7531= | |
| XM_006715414.1:c.22521A>G | XP_006715477.1:p.Gln7507= | |
| XM_006715415.1:c.22593A>G | XP_006715478.1:p.Gln7531= | |
| XM_006715416.1:c.22578A>G | XP_006715479.1:p.Gln7526= | |
| XM_006715417.1:c.22452A>G | XP_006715480.1:p.Gln7484= | |
| XM_006715420.1:c.22440A>G | XP_006715483.1:p.Gln7480= | |
| XM_006715421.1:c.22437A>G | XP_006715484.1:p.Gln7479= | |
| XM_006715422.1:c.22434A>G | XP_006715485.1:p.Gln7478= | |
| XM_006715423.1:c.22593A>G | XP_006715486.1:p.Gln7531= | |
| XM_006715424.1:c.22593A>G | XP_006715487.1:p.Gln7531= | |
| XM_006715425.1:c.22593A>G | XP_006715488.1:p.Gln7531= | |
| XM_011535641.1:c.22590A>G | XP_011533943.1:p.Gln7530= | |
| XM_011535642.1:c.22578A>G | XP_011533944.1:p.Gln7526= | |
| XM_011535643.1:c.22428A>G | XP_011533945.1:p.Gln7476= | |
| XM_011535644.1:c.20868A>G | XP_011533946.1:p.Gln6956= | |
| XM_011535645.1:c.20361A>G | XP_011533947.1:p.Gln6787= | |
| XM_011535647.1:c.15828A>G | XP_011533949.1:p.Gln5276= | |
| XM_006715408.2:c.22581A>G | XP_006715471.1:p.Gln7527= | |
| XM_006715410.2:c.22593A>G | XP_006715473.1:p.Gln7531= | |
| XM_006715412.2:c.22578A>G | XP_006715475.1:p.Gln7526= | |
| XM_006715413.2:c.22593A>G | XP_006715476.1:p.Gln7531= | |
| XM_006715415.2:c.22593A>G | XP_006715478.1:p.Gln7531= | |
| XM_006715416.2:c.22578A>G | XP_006715479.1:p.Gln7526= | |
| XM_006715417.2:c.22452A>G | XP_006715480.1:p.Gln7484= | |
| XM_006715420.2:c.22440A>G | XP_006715483.1:p.Gln7480= | |
| XM_006715421.2:c.22437A>G | XP_006715484.1:p.Gln7479= | |
| XM_006715423.2:c.22593A>G | XP_006715486.1:p.Gln7531= | |
| XM_006715424.2:c.22593A>G | XP_006715487.1:p.Gln7531= | |
| XM_006715425.2:c.22593A>G | XP_006715488.1:p.Gln7531= | |
| XM_011535641.2:c.22590A>G | XP_011533943.1:p.Gln7530= | |
| XM_011535642.2:c.22578A>G | XP_011533944.1:p.Gln7526= | |
| XM_011535645.2:c.20361A>G | XP_011533947.1:p.Gln6787= | |
| XM_017010608.1:c.22593A>G | XP_016866097.1:p.Gln7531= | |
| XM_017010609.1:c.22593A>G | XP_016866098.1:p.Gln7531= | |
| XM_017010610.1:c.22572A>G | XP_016866099.1:p.Gln7524= | |
| XM_017010611.2:c.22566A>G | XP_016866100.1:p.Gln7522= | |
| XM_017010612.1:c.22515A>G | XP_016866101.1:p.Gln7505= | |
| XM_017010613.1:c.22590A>G | XP_016866102.1:p.Gln7530= | |
| XM_017010614.1:c.22437A>G | XP_016866103.1:p.Gln7479= | |
| XM_017010615.1:c.22437A>G | XP_016866104.1:p.Gln7479= | |
| XM_017010616.1:c.22593A>G | XP_016866105.1:p.Gln7531= | |
| XM_017010617.1:c.22590A>G | XP_016866106.1:p.Gln7530= | |
| XM_017010618.1:c.22578A>G | XP_016866107.1:p.Gln7526= | |
| XM_017010619.1:c.20868A>G | XP_016866108.1:p.Gln6956= | |
| NM_182961.4:c.22557A>G MANE Select | NP_892006.3:p.Gln7519= | |
| NM_033071.5:c.22344A>G | NP_149062.2:p.Gln7448= |