Linked Data
ClinVar Variation Id:
313221
dbSNP Id:
rs201803784
ExAC:
14:45657020 G / A
gnomAD v2:
14-45657020-G-A
gnomAD v3:
14-45187817-G-A
gnomAD v4:
14-45187817-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45187817G>A , CM000676.2:g.45187817G>A | GRCh38 |
| NC_000014.8:g.45657020G>A , CM000676.1:g.45657020G>A | GRCh37 |
| NC_000014.7:g.44726770G>A | NCBI36 |
| NG_007417.1:g.56885G>A , LRG_502:g.56885G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554809.6:c.2921G>A | ENSP00000450632.2:p.Arg974His | |
| ENST00000555484.2:c.487G>A | ||
| ENST00000556250.6:c.4502G>A | ENSP00000452033.2:p.Arg1501His | |
| ENST00000557110.2:c.487G>A | ||
| ENST00000696642.1:c.*3520G>A | ENSP00000512775.1:n.*3520G>A | |
| ENST00000696644.1:n.445G>A | ||
| ENST00000696645.1:n.599G>A | ||
| ENST00000696647.1:c.4709G>A | ENSP00000512778.1:p.Arg1570His | |
| ENST00000696648.1:c.*2734G>A | ENSP00000512779.1:n.*2734G>A | |
| ENST00000696649.1:c.4553G>A | ENSP00000512780.1:p.Arg1518His | |
| ENST00000696650.1:n.4657G>A | ||
| ENST00000696659.1:c.2707G>A | ||
| ENST00000696663.1:c.3640G>A | ||
| ENST00000696664.1:c.3541G>A | ||
| ENST00000696665.1:c.487G>A | ||
| ENST00000696675.1:c.*465G>A | ENSP00000512799.1:n.*465G>A | |
| ENST00000696683.1:c.3526G>A | ||
| ENST00000696684.1:c.3526G>A | ||
| ENST00000696685.1:c.3526G>A | ||
| ENST00000696686.1:n.1446G>A | ||
| ENST00000267430.10:c.4709G>A MANE Select | ENSP00000267430.5:p.Arg1570His | |
| ENST00000267430.9:c.4709G>A | ENSP00000267430.5:p.Arg1570His | |
| ENST00000542564.6:c.4631G>A | ENSP00000442493.2:p.Arg1544His | |
| ENST00000554809.5:c.1506G>A | ||
| ENST00000555013.1:n.542G>A | ||
| ENST00000556250.5:c.3257G>A | ENSP00000452033.1:p.Arg1086His | |
| NM_001308133.1:c.4631G>A | NP_001295062.1:p.Arg1544His | |
| NM_020937.2:c.4709G>A , LRG_502t1:c.4709G>A | NP_065988.1:p.Arg1570His | |
| NM_020937.3:c.4709G>A | NP_065988.1:p.Arg1570His | |
| XM_011537034.1:c.4724G>A | XP_011535336.1:p.Arg1575His | |
| XM_011537035.1:c.4646G>A | XP_011535337.1:p.Arg1549His | |
| XM_011537036.1:c.4724G>A | XP_011535338.1:p.Arg1575His | |
| XM_011537037.1:c.2738G>A | XP_011535339.1:p.Arg913His | |
| XM_011537034.2:c.4724G>A | XP_011535336.1:p.Arg1575His | |
| XM_011537035.3:c.4646G>A | XP_011535337.1:p.Arg1549His | |
| XM_011537037.3:c.2738G>A | XP_011535339.1:p.Arg913His | |
| XM_017021523.1:c.4724G>A | XP_016877012.1:p.Arg1575His | |
| XM_017021524.2:c.3761G>A | XP_016877013.1:p.Arg1254His | |
| XM_017021525.2:c.3539G>A | XP_016877014.1:p.Arg1180His | |
| XM_017021526.2:c.3539G>A | XP_016877015.1:p.Arg1180His | |
| XM_017021527.1:c.3524G>A | XP_016877016.1:p.Arg1175His | |
| XR_001750470.1:n.4816G>A | ||
| XR_001750471.2:n.4801G>A | ||
| XR_001750472.1:n.4853G>A | ||
| NM_020937.4:c.4709G>A MANE Select | NP_065988.1:p.Arg1570His | |
| NM_001308133.2:c.4631G>A | NP_001295062.1:p.Arg1544His |