Linked Data
ClinVar Variation Id:
38194
ClinVar RCV Id:
RCV000031777
RCV000128971
RCV000505714
RCV000587937
RCV000761134
RCV000770734
RCV001082957
dbSNP Id:
rs80359143
ExAC:
13:32953617 G / A
gnomAD v2:
13-32953617-G-A
gnomAD v3:
13-32379480-G-A
gnomAD v4:
13-32379480-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379480G>A , CM000675.2:g.32379480G>A | GRCh38 |
| NC_000013.10:g.32953617G>A , CM000675.1:g.32953617G>A | GRCh37 |
| NC_000013.9:g.31851617G>A | NCBI36 |
| NG_012772.3:g.69001G>A , LRG_293:g.69001G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8918G>A | ENSP00000434898.2:p.Arg2973His | |
| ENST00000528762.2:c.*285G>A | ENSP00000433168.2:n.*285G>A | |
| ENST00000530893.7:c.8549G>A | ENSP00000499438.2:p.Arg2850His | |
| ENST00000665585.2:c.*480G>A | ENSP00000499570.2:n.*480G>A | |
| ENST00000666593.2:c.8918G>A | ENSP00000499256.2:p.Arg2973His | |
| ENST00000700202.2:c.8918G>A | ENSP00000514856.2:p.Arg2973His | |
| ENST00000700202.1:c.1385G>A | ENSP00000514856.1:p.Arg462His | |
| ENST00000700203.1:n.1045G>A | ||
| ENST00000380152.8:c.8918G>A MANE Select | ENSP00000369497.3:p.Arg2973His | |
| ENST00000544455.6:c.8918G>A | ENSP00000439902.1:p.Arg2973His | |
| ENST00000614259.2:c.8926G>A | ENSP00000506251.1:n.8926G>A | |
| ENST00000665585.1:c.1796G>A | ||
| ENST00000680887.1:c.8918G>A | ENSP00000505508.1:p.Arg2973His | |
| ENST00000380152.7:c.8918G>A | ENSP00000369497.3:p.Arg2973His | |
| ENST00000528762.1:c.480G>A | ENSP00000433168.1:n.480G>A | |
| ENST00000544455.5:c.8918G>A | ENSP00000439902.1:p.Arg2973His | |
| NM_000059.3:c.8918G>A , LRG_293t1:c.8918G>A | NP_000050.2:p.Arg2973His | |
| XM_011535203.1:c.8918G>A | XP_011533505.1:p.Arg2973His | |
| XM_011535204.1:c.8822G>A | XP_011533506.1:p.Arg2941His | |
| XM_011535205.1:c.8755-270G>A | XP_011533507.1:n.8755-270G>A | |
| NM_000059.4:c.8918G>A MANE Select | NP_000050.3:p.Arg2973His |