Linked Data
ClinVar Variation Id:
500091
dbSNP Id:
rs34963077
ExAC:
6:152545681 C / T
gnomAD v2:
6-152545681-C-T
gnomAD v3:
6-152224546-C-T
gnomAD v4:
6-152224546-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152224546C>T , CM000668.2:g.152224546C>T | GRCh38 |
| NC_000006.11:g.152545681C>T , CM000668.1:g.152545681C>T | GRCh37 |
| NC_000006.10:g.152587374C>T | NCBI36 |
| NG_012855.1:g.417854G>A | |
| NG_012855.2:g.417854G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.21470G>A MANE Select | ENSP00000356224.5:p.Arg7157His | |
| ENST00000423061.6:c.21257G>A | ENSP00000396024.1:p.Arg7086His | |
| ENST00000341594.9:c.20255G>A | ENSP00000341887.6:p.Arg6752His | |
| ENST00000367251.7:c.236G>A | ENSP00000356220.3:p.Arg79His | |
| ENST00000367255.9:c.21470G>A | ENSP00000356224.5:p.Arg7157His | |
| ENST00000367256.9:n.5162G>A | ||
| ENST00000409694.6:n.5054G>A | ||
| ENST00000423061.5:c.21257G>A | ENSP00000396024.1:p.Arg7086His | |
| NM_033071.3:c.21257G>A | NP_149062.1:p.Arg7086His | |
| NM_182961.3:c.21470G>A | NP_892006.3:p.Arg7157His | |
| XM_006715407.1:c.21506G>A | XP_006715470.1:p.Arg7169His | |
| XM_006715408.1:c.21494G>A | XP_006715471.1:p.Arg7165His | |
| XM_006715409.1:c.21485G>A | XP_006715472.1:p.Arg7162His | |
| XM_006715410.1:c.21506G>A | XP_006715473.1:p.Arg7169His | |
| XM_006715411.1:c.21455G>A | XP_006715474.1:p.Arg7152His | |
| XM_006715412.1:c.21491G>A | XP_006715475.1:p.Arg7164His | |
| XM_006715413.1:c.21506G>A | XP_006715476.1:p.Arg7169His | |
| XM_006715414.1:c.21434G>A | XP_006715477.1:p.Arg7145His | |
| XM_006715415.1:c.21506G>A | XP_006715478.1:p.Arg7169His | |
| XM_006715416.1:c.21491G>A | XP_006715479.1:p.Arg7164His | |
| XM_006715417.1:c.21365G>A | XP_006715480.1:p.Arg7122His | |
| XM_006715420.1:c.21353G>A | XP_006715483.1:p.Arg7118His | |
| XM_006715421.1:c.21350G>A | XP_006715484.1:p.Arg7117His | |
| XM_006715422.1:c.21347G>A | XP_006715485.1:p.Arg7116His | |
| XM_006715423.1:c.21506G>A | XP_006715486.1:p.Arg7169His | |
| XM_006715424.1:c.21506G>A | XP_006715487.1:p.Arg7169His | |
| XM_006715425.1:c.21506G>A | XP_006715488.1:p.Arg7169His | |
| XM_011535641.1:c.21503G>A | XP_011533943.1:p.Arg7168His | |
| XM_011535642.1:c.21491G>A | XP_011533944.1:p.Arg7164His | |
| XM_011535643.1:c.21341G>A | XP_011533945.1:p.Arg7114His | |
| XM_011535644.1:c.19781G>A | XP_011533946.1:p.Arg6594His | |
| XM_011535645.1:c.19274G>A | XP_011533947.1:p.Arg6425His | |
| XM_011535647.1:c.14741G>A | XP_011533949.1:p.Arg4914His | |
| XM_006715408.2:c.21494G>A | XP_006715471.1:p.Arg7165His | |
| XM_006715410.2:c.21506G>A | XP_006715473.1:p.Arg7169His | |
| XM_006715412.2:c.21491G>A | XP_006715475.1:p.Arg7164His | |
| XM_006715413.2:c.21506G>A | XP_006715476.1:p.Arg7169His | |
| XM_006715415.2:c.21506G>A | XP_006715478.1:p.Arg7169His | |
| XM_006715416.2:c.21491G>A | XP_006715479.1:p.Arg7164His | |
| XM_006715417.2:c.21365G>A | XP_006715480.1:p.Arg7122His | |
| XM_006715420.2:c.21353G>A | XP_006715483.1:p.Arg7118His | |
| XM_006715421.2:c.21350G>A | XP_006715484.1:p.Arg7117His | |
| XM_006715423.2:c.21506G>A | XP_006715486.1:p.Arg7169His | |
| XM_006715424.2:c.21506G>A | XP_006715487.1:p.Arg7169His | |
| XM_006715425.2:c.21506G>A | XP_006715488.1:p.Arg7169His | |
| XM_011535641.2:c.21503G>A | XP_011533943.1:p.Arg7168His | |
| XM_011535642.2:c.21491G>A | XP_011533944.1:p.Arg7164His | |
| XM_011535645.2:c.19274G>A | XP_011533947.1:p.Arg6425His | |
| XM_017010608.1:c.21506G>A | XP_016866097.1:p.Arg7169His | |
| XM_017010609.1:c.21506G>A | XP_016866098.1:p.Arg7169His | |
| XM_017010610.1:c.21485G>A | XP_016866099.1:p.Arg7162His | |
| XM_017010611.2:c.21479G>A | XP_016866100.1:p.Arg7160His | |
| XM_017010612.1:c.21428G>A | XP_016866101.1:p.Arg7143His | |
| XM_017010613.1:c.21503G>A | XP_016866102.1:p.Arg7168His | |
| XM_017010614.1:c.21350G>A | XP_016866103.1:p.Arg7117His | |
| XM_017010615.1:c.21350G>A | XP_016866104.1:p.Arg7117His | |
| XM_017010616.1:c.21506G>A | XP_016866105.1:p.Arg7169His | |
| XM_017010617.1:c.21503G>A | XP_016866106.1:p.Arg7168His | |
| XM_017010618.1:c.21491G>A | XP_016866107.1:p.Arg7164His | |
| XM_017010619.1:c.19781G>A | XP_016866108.1:p.Arg6594His | |
| NM_182961.4:c.21470G>A MANE Select | NP_892006.3:p.Arg7157His | |
| NM_033071.5:c.21257G>A | NP_149062.2:p.Arg7086His |