Linked Data
ClinVar Variation Id:
481561
ClinVar RCV Id:
RCV000576084
dbSNP Id:
rs1359369718
gnomAD v2:
13-32912542-T-A
gnomAD v4:
13-32338405-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32338405T>A , CM000675.2:g.32338405T>A | GRCh38 |
| NC_000013.10:g.32912542T>A , CM000675.1:g.32912542T>A | GRCh37 |
| NC_000013.9:g.31810542T>A | NCBI36 |
| NG_012772.3:g.27926T>A , LRG_293:g.27926T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.4050T>A | ENSP00000434898.2:p.His1350Gln | |
| ENST00000528762.2:c.4050T>A | ENSP00000433168.2:p.His1350Gln | |
| ENST00000530893.7:c.3681T>A | ENSP00000499438.2:p.His1227Gln | |
| ENST00000665585.2:c.4050T>A | ENSP00000499570.2:p.His1350Gln | |
| ENST00000666593.2:c.4050T>A | ENSP00000499256.2:p.His1350Gln | |
| ENST00000700202.2:c.4050T>A | ENSP00000514856.2:p.His1350Gln | |
| ENST00000380152.8:c.4050T>A MANE Select | ENSP00000369497.3:p.His1350Gln | |
| ENST00000544455.6:c.4050T>A | ENSP00000439902.1:p.His1350Gln | |
| ENST00000614259.2:c.4050T>A | ENSP00000506251.1:p.His1350Gln | |
| ENST00000680887.1:c.4050T>A | ENSP00000505508.1:p.His1350Gln | |
| ENST00000380152.7:c.4050T>A | ENSP00000369497.3:p.His1350Gln | |
| ENST00000544455.5:c.4050T>A | ENSP00000439902.1:p.His1350Gln | |
| ENST00000614259.1:n.4050T>A | ||
| NM_000059.3:c.4050T>A , LRG_293t1:c.4050T>A | NP_000050.2:p.His1350Gln | |
| XM_011535203.1:c.4050T>A | XP_011533505.1:p.His1350Gln | |
| XM_011535204.1:c.4050T>A | XP_011533506.1:p.His1350Gln | |
| XM_011535205.1:c.4050T>A | XP_011533507.1:p.His1350Gln | |
| NM_000059.4:c.4050T>A MANE Select | NP_000050.3:p.His1350Gln |