Linked Data
ClinVar Variation Id:
999424
ClinVar RCV Id:
RCV001295421
dbSNP Id:
rs752421314
ExAC:
6:152534810 T / G
gnomAD v2:
6-152534810-T-G
gnomAD v3:
6-152213675-T-G
gnomAD v4:
6-152213675-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152213675T>G , CM000668.2:g.152213675T>G | GRCh38 |
| NC_000006.11:g.152534810T>G , CM000668.1:g.152534810T>G | GRCh37 |
| NC_000006.10:g.152576503T>G | NCBI36 |
| NG_012855.1:g.428725A>C | |
| NG_012855.2:g.428725A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.22431A>C MANE Select | ENSP00000356224.5:p.Gln7477His | |
| ENST00000423061.6:c.22218A>C | ENSP00000396024.1:p.Gln7406His | |
| ENST00000341594.9:c.21216A>C | ENSP00000341887.6:p.Gln7072His | |
| ENST00000367251.7:c.1197A>C | ENSP00000356220.3:p.Gln399His | |
| ENST00000367255.9:c.22431A>C | ENSP00000356224.5:p.Gln7477His | |
| ENST00000367256.9:n.6123A>C | ||
| ENST00000367257.8:c.369A>C | ENSP00000356226.4:p.Gln123His | |
| ENST00000409694.6:n.6015A>C | ||
| ENST00000423061.5:c.22218A>C | ENSP00000396024.1:p.Gln7406His | |
| NM_033071.3:c.22218A>C | NP_149062.1:p.Gln7406His | |
| NM_182961.3:c.22431A>C | NP_892006.3:p.Gln7477His | |
| XM_006715407.1:c.22467A>C | XP_006715470.1:p.Gln7489His | |
| XM_006715408.1:c.22455A>C | XP_006715471.1:p.Gln7485His | |
| XM_006715409.1:c.22446A>C | XP_006715472.1:p.Gln7482His | |
| XM_006715410.1:c.22467A>C | XP_006715473.1:p.Gln7489His | |
| XM_006715411.1:c.22416A>C | XP_006715474.1:p.Gln7472His | |
| XM_006715412.1:c.22452A>C | XP_006715475.1:p.Gln7484His | |
| XM_006715413.1:c.22467A>C | XP_006715476.1:p.Gln7489His | |
| XM_006715414.1:c.22395A>C | XP_006715477.1:p.Gln7465His | |
| XM_006715415.1:c.22467A>C | XP_006715478.1:p.Gln7489His | |
| XM_006715416.1:c.22452A>C | XP_006715479.1:p.Gln7484His | |
| XM_006715417.1:c.22326A>C | XP_006715480.1:p.Gln7442His | |
| XM_006715420.1:c.22314A>C | XP_006715483.1:p.Gln7438His | |
| XM_006715421.1:c.22311A>C | XP_006715484.1:p.Gln7437His | |
| XM_006715422.1:c.22308A>C | XP_006715485.1:p.Gln7436His | |
| XM_006715423.1:c.22467A>C | XP_006715486.1:p.Gln7489His | |
| XM_006715424.1:c.22467A>C | XP_006715487.1:p.Gln7489His | |
| XM_006715425.1:c.22467A>C | XP_006715488.1:p.Gln7489His | |
| XM_011535641.1:c.22464A>C | XP_011533943.1:p.Gln7488His | |
| XM_011535642.1:c.22452A>C | XP_011533944.1:p.Gln7484His | |
| XM_011535643.1:c.22302A>C | XP_011533945.1:p.Gln7434His | |
| XM_011535644.1:c.20742A>C | XP_011533946.1:p.Gln6914His | |
| XM_011535645.1:c.20235A>C | XP_011533947.1:p.Gln6745His | |
| XM_011535647.1:c.15702A>C | XP_011533949.1:p.Gln5234His | |
| XM_006715408.2:c.22455A>C | XP_006715471.1:p.Gln7485His | |
| XM_006715410.2:c.22467A>C | XP_006715473.1:p.Gln7489His | |
| XM_006715412.2:c.22452A>C | XP_006715475.1:p.Gln7484His | |
| XM_006715413.2:c.22467A>C | XP_006715476.1:p.Gln7489His | |
| XM_006715415.2:c.22467A>C | XP_006715478.1:p.Gln7489His | |
| XM_006715416.2:c.22452A>C | XP_006715479.1:p.Gln7484His | |
| XM_006715417.2:c.22326A>C | XP_006715480.1:p.Gln7442His | |
| XM_006715420.2:c.22314A>C | XP_006715483.1:p.Gln7438His | |
| XM_006715421.2:c.22311A>C | XP_006715484.1:p.Gln7437His | |
| XM_006715423.2:c.22467A>C | XP_006715486.1:p.Gln7489His | |
| XM_006715424.2:c.22467A>C | XP_006715487.1:p.Gln7489His | |
| XM_006715425.2:c.22467A>C | XP_006715488.1:p.Gln7489His | |
| XM_011535641.2:c.22464A>C | XP_011533943.1:p.Gln7488His | |
| XM_011535642.2:c.22452A>C | XP_011533944.1:p.Gln7484His | |
| XM_011535645.2:c.20235A>C | XP_011533947.1:p.Gln6745His | |
| XM_017010608.1:c.22467A>C | XP_016866097.1:p.Gln7489His | |
| XM_017010609.1:c.22467A>C | XP_016866098.1:p.Gln7489His | |
| XM_017010610.1:c.22446A>C | XP_016866099.1:p.Gln7482His | |
| XM_017010611.2:c.22440A>C | XP_016866100.1:p.Gln7480His | |
| XM_017010612.1:c.22389A>C | XP_016866101.1:p.Gln7463His | |
| XM_017010613.1:c.22464A>C | XP_016866102.1:p.Gln7488His | |
| XM_017010614.1:c.22311A>C | XP_016866103.1:p.Gln7437His | |
| XM_017010615.1:c.22311A>C | XP_016866104.1:p.Gln7437His | |
| XM_017010616.1:c.22467A>C | XP_016866105.1:p.Gln7489His | |
| XM_017010617.1:c.22464A>C | XP_016866106.1:p.Gln7488His | |
| XM_017010618.1:c.22452A>C | XP_016866107.1:p.Gln7484His | |
| XM_017010619.1:c.20742A>C | XP_016866108.1:p.Gln6914His | |
| NM_182961.4:c.22431A>C MANE Select | NP_892006.3:p.Gln7477His | |
| NM_033071.5:c.22218A>C | NP_149062.2:p.Gln7406His |