Linked Data
ClinVar Variation Id:
836364
ClinVar RCV Id:
RCV001037478
dbSNP Id:
rs764111837
ExAC:
11:68701333 G / A
gnomAD v2:
11-68701333-G-A
gnomAD v3:
11-68933865-G-A
gnomAD v4:
11-68933865-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933865G>A , CM000673.2:g.68933865G>A | GRCh38 |
| NC_000011.9:g.68701333G>A , CM000673.1:g.68701333G>A | GRCh37 |
| NC_000011.8:g.68457909G>A | NCBI36 |
| NG_007976.1:g.35015G>A , LRG_250:g.35015G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1489G>A MANE Select | ENSP00000255078.4:p.Gly497Arg | |
| ENST00000674955.1:c.*206G>A | ENSP00000502463.1:n.*206G>A | |
| ENST00000675118.1:c.977G>A | ||
| ENST00000675205.1:n.183+384G>A | ||
| ENST00000675615.1:c.1489G>A | ENSP00000502413.1:p.Gly497Arg | |
| ENST00000675648.1:n.864G>A | ||
| ENST00000675997.1:n.113-599G>A | ||
| ENST00000676173.1:n.2234G>A | ||
| ENST00000676228.1:c.*812G>A | ENSP00000502375.1:n.*812G>A | |
| ENST00000255078.7:c.1489G>A | ENSP00000255078.3:p.Gly497Arg | |
| ENST00000537458.5:n.606G>A | ||
| ENST00000539064.5:n.1248G>A | ||
| ENST00000541229.5:n.184G>A | ||
| ENST00000543739.5:n.606G>A | ||
| NM_002180.2:c.1489G>A , LRG_250t1:c.1489G>A | NP_002171.2:p.Gly497Arg | |
| XM_005273974.2:c.478G>A | XP_005274031.1:p.Gly160Arg | |
| XM_005273975.2:c.361G>A | XP_005274032.1:p.Gly121Arg | |
| XM_011544994.1:c.256G>A | XP_011543296.1:p.Gly86Arg | |
| XR_949903.1:n.1591G>A | ||
| XM_005273975.3:c.361G>A | XP_005274032.1:p.Gly121Arg | |
| XM_017017669.2:c.478G>A | XP_016873158.1:p.Gly160Arg | |
| XM_017017670.2:c.478G>A | XP_016873159.1:p.Gly160Arg | |
| XM_017017671.2:c.1489G>A | XP_016873160.1:p.Gly497Arg | |
| XR_949903.3:n.1587G>A | ||
| NM_002180.3:c.1489G>A MANE Select | NP_002171.2:p.Gly497Arg |