Linked Data
ClinVar Variation Id:
37722
ClinVar RCV Id:
RCV000031303
RCV000162743
RCV000374528
RCV000725588
RCV000768613
RCV001086927
RCV001353958
RCV004532431
dbSNP Id:
rs80358398
ExAC:
13:32972804 G / A
gnomAD v2:
13-32972804-G-A
gnomAD v3:
13-32398667-G-A
gnomAD v4:
13-32398667-G-A
PubMed:
PMID:10923033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398667G>A , CM000675.2:g.32398667G>A | GRCh38 |
| NC_000013.10:g.32972804G>A , CM000675.1:g.32972804G>A | GRCh37 |
| NC_000013.9:g.31870804G>A | NCBI36 |
| NG_012772.3:g.88188G>A , LRG_293:g.88188G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*677G>A | ENSP00000434898.2:n.*677G>A | |
| ENST00000528762.2:c.*1521G>A | ENSP00000433168.2:n.*1521G>A | |
| ENST00000530893.7:c.9785G>A | ENSP00000499438.2:p.Arg3262His | |
| ENST00000665585.2:c.*1716G>A | ENSP00000499570.2:n.*1716G>A | |
| ENST00000700202.2:c.10103G>A | ENSP00000514856.2:p.Arg3368His | |
| ENST00000700202.1:c.2570G>A | ENSP00000514856.1:p.Arg857His | |
| ENST00000700203.1:n.2281G>A | ||
| ENST00000380152.8:c.10154G>A MANE Select | ENSP00000369497.3:p.Arg3385His | |
| ENST00000544455.6:c.10154G>A | ENSP00000439902.1:p.Arg3385His | |
| ENST00000614259.2:c.10162G>A | ENSP00000506251.1:n.10162G>A | |
| ENST00000680887.1:c.10154G>A | ENSP00000505508.1:p.Arg3385His | |
| ENST00000380152.7:c.10154G>A | ENSP00000369497.3:p.Arg3385His | |
| ENST00000544455.5:c.10154G>A | ENSP00000439902.1:p.Arg3385His | |
| NM_000059.3:c.10154G>A , LRG_293t1:c.10154G>A | NP_000050.2:p.Arg3385His | |
| XM_011535203.1:c.10154G>A | XP_011533505.1:p.Arg3385His | |
| XM_011535204.1:c.10058G>A | XP_011533506.1:p.Arg3353His | |
| NM_000059.4:c.10154G>A MANE Select | NP_000050.3:p.Arg3385His |