Linked Data
ClinVar Variation Id:
7098
ClinVar RCV Id:
RCV000007515
RCV000301689
RCV000356568
RCV000559186
RCV001289042
RCV001610287
RCV004532306
dbSNP Id:
rs75654767
ExAC:
10:13178766 G / A
gnomAD v2:
10-13178766-G-A
gnomAD v3:
10-13136766-G-A
gnomAD v4:
10-13136766-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13136766G>A , CM000672.2:g.13136766G>A | GRCh38 |
| NC_000010.10:g.13178766G>A , CM000672.1:g.13178766G>A | GRCh37 |
| NC_000010.9:g.13218772G>A | NCBI36 |
| NG_012876.1:g.41685G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378747.8:c.1634G>A MANE Select | ENSP00000368021.3:p.Arg545Gln | |
| ENST00000263036.9:c.1634G>A | ENSP00000263036.3:p.Arg545Gln | |
| ENST00000378747.7:c.1634G>A | ENSP00000368021.3:p.Arg545Gln | |
| ENST00000378748.7:c.1634G>A | ENSP00000368022.3:p.Arg545Gln | |
| ENST00000378752.7:c.1616G>A | ENSP00000368027.3:p.Arg539Gln | |
| ENST00000378757.6:c.1634G>A | ENSP00000368032.2:p.Arg545Gln | |
| ENST00000378764.6:c.1616G>A | ENSP00000368040.1:p.Arg539Gln | |
| ENST00000469025.1:n.490G>A | ||
| NM_001008211.1:c.1634G>A | NP_001008212.1:p.Arg545Gln | |
| NM_001008212.1:c.1634G>A | NP_001008213.1:p.Arg545Gln | |
| NM_001008213.1:c.1634G>A | NP_001008214.1:p.Arg545Gln | |
| NM_021980.4:c.1634G>A | NP_068815.2:p.Arg545Gln | |
| XM_005252336.2:c.1616G>A | XP_005252393.2:p.Arg539Gln | |
| XM_005252337.3:c.1616G>A | XP_005252394.2:p.Arg539Gln | |
| XM_005252338.2:c.1463G>A | XP_005252395.2:p.Arg488Gln | |
| NM_001008212.2:c.1634G>A MANE Select | NP_001008213.1:p.Arg545Gln |