Linked Data
ClinVar Variation Id:
414849
ClinVar RCV Id:
RCV000475344
RCV000989208
RCV001569551
RCV001821346
RCV002257746
RCV004535465
RCV003316605
RCV003447530
dbSNP Id:
rs139382267
ExAC:
14:45645253 G / A
gnomAD v2:
14-45645253-G-A
gnomAD v3:
14-45176050-G-A
gnomAD v4:
14-45176050-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45176050G>A , CM000676.2:g.45176050G>A | GRCh38 |
| NC_000014.8:g.45645253G>A , CM000676.1:g.45645253G>A | GRCh37 |
| NC_000014.7:g.44715003G>A | NCBI36 |
| NG_007417.1:g.45118G>A , LRG_502:g.45118G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554809.6:c.1508G>A | ENSP00000450632.2:p.Arg503His | |
| ENST00000556250.6:c.3089G>A | ENSP00000452033.2:p.Arg1030His | |
| ENST00000696641.1:c.3137G>A | ENSP00000512774.1:p.Arg1046His | |
| ENST00000696642.1:c.*2107G>A | ENSP00000512775.1:n.*2107G>A | |
| ENST00000696646.1:c.*2107G>A | ENSP00000512777.1:n.*2107G>A | |
| ENST00000696647.1:c.3296G>A | ENSP00000512778.1:p.Arg1099His | |
| ENST00000696648.1:c.*1321G>A | ENSP00000512779.1:n.*1321G>A | |
| ENST00000696649.1:c.3140G>A | ENSP00000512780.1:p.Arg1047His | |
| ENST00000696650.1:n.3244G>A | ||
| ENST00000696659.1:c.1294G>A | ||
| ENST00000696663.1:c.2113G>A | ||
| ENST00000696664.1:c.2113G>A | ||
| ENST00000696675.1:c.3296G>A | ENSP00000512799.1:p.Arg1099His | |
| ENST00000696683.1:c.2113G>A | ||
| ENST00000696684.1:c.2113G>A | ||
| ENST00000696685.1:c.2113G>A | ||
| ENST00000267430.10:c.3296G>A MANE Select | ENSP00000267430.5:p.Arg1099His | |
| ENST00000267430.9:c.3296G>A | ENSP00000267430.5:p.Arg1099His | |
| ENST00000542564.6:c.3218G>A | ENSP00000442493.2:p.Arg1073His | |
| ENST00000554809.5:c.93G>A | ||
| ENST00000556250.5:c.1844G>A | ENSP00000452033.1:p.Arg615His | |
| NM_001308133.1:c.3218G>A | NP_001295062.1:p.Arg1073His | |
| NM_020937.2:c.3296G>A , LRG_502t1:c.3296G>A | NP_065988.1:p.Arg1099His | |
| NM_020937.3:c.3296G>A | NP_065988.1:p.Arg1099His | |
| XM_011537034.1:c.3296G>A | XP_011535336.1:p.Arg1099His | |
| XM_011537035.1:c.3218G>A | XP_011535337.1:p.Arg1073His | |
| XM_011537036.1:c.3296G>A | XP_011535338.1:p.Arg1099His | |
| XM_011537037.1:c.1310G>A | XP_011535339.1:p.Arg437His | |
| XM_011537034.2:c.3296G>A | XP_011535336.1:p.Arg1099His | |
| XM_011537035.3:c.3218G>A | XP_011535337.1:p.Arg1073His | |
| XM_011537037.3:c.1310G>A | XP_011535339.1:p.Arg437His | |
| XM_017021523.1:c.3296G>A | XP_016877012.1:p.Arg1099His | |
| XM_017021524.2:c.2333G>A | XP_016877013.1:p.Arg778His | |
| XM_017021525.2:c.2111G>A | XP_016877014.1:p.Arg704His | |
| XM_017021526.2:c.2111G>A | XP_016877015.1:p.Arg704His | |
| XM_017021527.1:c.2111G>A | XP_016877016.1:p.Arg704His | |
| XR_001750470.1:n.3388G>A | ||
| XR_001750471.2:n.3388G>A | ||
| XR_001750472.1:n.3388G>A | ||
| NM_020937.4:c.3296G>A MANE Select | NP_065988.1:p.Arg1099His | |
| NM_001308133.2:c.3218G>A | NP_001295062.1:p.Arg1073His |