Linked Data
ClinVar Variation Id:
995003
dbSNP Id:
rs200684943
ExAC:
6:152464870 C / T
gnomAD v2:
6-152464870-C-T
gnomAD v3:
6-152143735-C-T
gnomAD v4:
6-152143735-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152143735C>T , CM000668.2:g.152143735C>T | GRCh38 |
| NC_000006.11:g.152464870C>T , CM000668.1:g.152464870C>T | GRCh37 |
| NC_000006.10:g.152506563C>T | NCBI36 |
| NG_012855.1:g.498665G>A | |
| NG_012855.2:g.498665G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1541G>A MANE Plus Clinical | ENSP00000346701.4:p.Arg514Gln | |
| ENST00000367255.10:c.25007G>A MANE Select | ENSP00000356224.5:p.Arg8336Gln | |
| ENST00000423061.6:c.24863G>A | ENSP00000396024.1:p.Arg8288Gln | |
| ENST00000672154.1:c.409G>A | ||
| ENST00000672169.1:c.742G>A | ||
| ENST00000673173.1:c.891-3574G>A | ||
| ENST00000673451.1:c.779G>A | ENSP00000500189.1:p.Arg260Gln | |
| ENST00000341594.9:c.23792G>A | ENSP00000341887.6:p.Arg7931Gln | |
| ENST00000347037.9:n.1755G>A | ||
| ENST00000354674.4:c.1541G>A | ENSP00000346701.4:p.Arg514Gln | |
| ENST00000367251.7:c.3842G>A | ENSP00000356220.3:p.Arg1281Gln | |
| ENST00000367255.9:c.25007G>A | ENSP00000356224.5:p.Arg8336Gln | |
| ENST00000367256.9:n.8699G>A | ||
| ENST00000367257.8:c.2945G>A | ENSP00000356226.4:p.Arg982Gln | |
| ENST00000409694.6:n.8591G>A | ||
| ENST00000423061.5:c.24863G>A | ENSP00000396024.1:p.Arg8288Gln | |
| ENST00000460912.6:n.1621G>A | ||
| ENST00000478916.5:n.4029G>A | ||
| ENST00000536990.5:n.1844G>A | ||
| ENST00000539504.5:c.1472G>A | ENSP00000441052.1:p.Arg491Gln | |
| NM_033071.3:c.24863G>A | NP_149062.1:p.Arg8288Gln | |
| NM_182961.3:c.25007G>A | NP_892006.3:p.Arg8336Gln | |
| XM_006715407.1:c.25112G>A | XP_006715470.1:p.Arg8371Gln | |
| XM_006715408.1:c.25100G>A | XP_006715471.1:p.Arg8367Gln | |
| XM_006715409.1:c.25091G>A | XP_006715472.1:p.Arg8364Gln | |
| XM_006715410.1:c.25112G>A | XP_006715473.1:p.Arg8371Gln | |
| XM_006715411.1:c.25061G>A | XP_006715474.1:p.Arg8354Gln | |
| XM_006715412.1:c.25097G>A | XP_006715475.1:p.Arg8366Gln | |
| XM_006715413.1:c.25043G>A | XP_006715476.1:p.Arg8348Gln | |
| XM_006715414.1:c.25040G>A | XP_006715477.1:p.Arg8347Gln | |
| XM_006715415.1:c.25043G>A | XP_006715478.1:p.Arg8348Gln | |
| XM_006715416.1:c.25028G>A | XP_006715479.1:p.Arg8343Gln | |
| XM_006715417.1:c.24971G>A | XP_006715480.1:p.Arg8324Gln | |
| XM_006715420.1:c.24959G>A | XP_006715483.1:p.Arg8320Gln | |
| XM_006715421.1:c.24956G>A | XP_006715484.1:p.Arg8319Gln | |
| XM_006715422.1:c.24953G>A | XP_006715485.1:p.Arg8318Gln | |
| XM_006715423.1:c.25112G>A | XP_006715486.1:p.Arg8371Gln | |
| XM_006715424.1:c.25112G>A | XP_006715487.1:p.Arg8371Gln | |
| XM_006715425.1:c.25043G>A | XP_006715488.1:p.Arg8348Gln | |
| XM_011535641.1:c.25109G>A | XP_011533943.1:p.Arg8370Gln | |
| XM_011535642.1:c.25097G>A | XP_011533944.1:p.Arg8366Gln | |
| XM_011535643.1:c.24947G>A | XP_011533945.1:p.Arg8316Gln | |
| XM_011535644.1:c.23387G>A | XP_011533946.1:p.Arg7796Gln | |
| XM_011535645.1:c.22880G>A | XP_011533947.1:p.Arg7627Gln | |
| XM_011535647.1:c.18347G>A | XP_011533949.1:p.Arg6116Gln | |
| NM_001347701.1:c.1613G>A | NP_001334630.1:p.Arg538Gln | |
| NM_001347702.1:c.1541G>A | NP_001334631.1:p.Arg514Gln | |
| XM_006715408.2:c.25100G>A | XP_006715471.1:p.Arg8367Gln | |
| XM_006715410.2:c.25112G>A | XP_006715473.1:p.Arg8371Gln | |
| XM_006715412.2:c.25097G>A | XP_006715475.1:p.Arg8366Gln | |
| XM_006715413.2:c.25043G>A | XP_006715476.1:p.Arg8348Gln | |
| XM_006715415.2:c.25043G>A | XP_006715478.1:p.Arg8348Gln | |
| XM_006715416.2:c.25028G>A | XP_006715479.1:p.Arg8343Gln | |
| XM_006715417.2:c.24971G>A | XP_006715480.1:p.Arg8324Gln | |
| XM_006715420.2:c.24959G>A | XP_006715483.1:p.Arg8320Gln | |
| XM_006715421.2:c.24956G>A | XP_006715484.1:p.Arg8319Gln | |
| XM_006715423.2:c.25112G>A | XP_006715486.1:p.Arg8371Gln | |
| XM_006715424.2:c.25112G>A | XP_006715487.1:p.Arg8371Gln | |
| XM_006715425.2:c.25043G>A | XP_006715488.1:p.Arg8348Gln | |
| XM_011535641.2:c.25109G>A | XP_011533943.1:p.Arg8370Gln | |
| XM_011535642.2:c.25097G>A | XP_011533944.1:p.Arg8366Gln | |
| XM_011535645.2:c.22880G>A | XP_011533947.1:p.Arg7627Gln | |
| XM_017010608.1:c.25112G>A | XP_016866097.1:p.Arg8371Gln | |
| XM_017010609.1:c.25112G>A | XP_016866098.1:p.Arg8371Gln | |
| XM_017010610.1:c.25091G>A | XP_016866099.1:p.Arg8364Gln | |
| XM_017010611.2:c.25085G>A | XP_016866100.1:p.Arg8362Gln | |
| XM_017010612.1:c.25034G>A | XP_016866101.1:p.Arg8345Gln | |
| XM_017010613.1:c.25040G>A | XP_016866102.1:p.Arg8347Gln | |
| XM_017010614.1:c.24956G>A | XP_016866103.1:p.Arg8319Gln | |
| XM_017010615.1:c.24887G>A | XP_016866104.1:p.Arg8296Gln | |
| XM_017010616.1:c.25043G>A | XP_016866105.1:p.Arg8348Gln | |
| XM_017010617.1:c.25040G>A | XP_016866106.1:p.Arg8347Gln | |
| XM_017010618.1:c.25028G>A | XP_016866107.1:p.Arg8343Gln | |
| XM_017010619.1:c.23387G>A | XP_016866108.1:p.Arg7796Gln | |
| NM_182961.4:c.25007G>A MANE Select | NP_892006.3:p.Arg8336Gln | |
| NM_001347701.2:c.1613G>A | NP_001334630.1:p.Arg538Gln | |
| NM_001347702.2:c.1541G>A MANE Plus Clinical | NP_001334631.1:p.Arg514Gln | |
| NM_033071.5:c.24863G>A | NP_149062.2:p.Arg8288Gln |