Linked Data
ClinVar Variation Id:
1990005
ClinVar RCV Id:
RCV002786795
dbSNP Id:
rs747894751
ExAC:
10:43615037 C / A
gnomAD v2:
10-43615037-C-A
gnomAD v3:
10-43119589-C-A
gnomAD v4:
10-43119589-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43119589C>A , CM000672.2:g.43119589C>A | GRCh38 |
| NC_000010.10:g.43615037C>A , CM000672.1:g.43615037C>A | GRCh37 |
| NC_000010.9:g.42935043C>A | NCBI36 |
| NG_007489.1:g.47521C>A , LRG_518:g.47521C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2055C>A | ENSP00000480088.2:p.Arg685= | |
| ENST00000683007.1:n.2025C>A | ||
| ENST00000683872.1:n.2016C>A | ||
| ENST00000340058.6:c.2451C>A | ENSP00000344798.4:p.Arg817= | |
| ENST00000355710.8:c.2451C>A MANE Select | ENSP00000347942.3:p.Arg817= | |
| ENST00000671844.1:c.*1045C>A | ENSP00000500541.1:n.*1045C>A | |
| ENST00000672389.1:c.*1045C>A | ENSP00000500252.1:n.*1045C>A | |
| ENST00000340058.5:c.2451C>A | ENSP00000344798.4:p.Arg817= | |
| ENST00000355710.7:c.2451C>A | ENSP00000347942.3:p.Arg817= | |
| ENST00000615310.4:c.1290-113C>A | ENSP00000480088.1:n.1290-113C>A | |
| NM_020630.4:c.2451C>A , LRG_518t2:c.2451C>A | NP_065681.1:p.Arg817= | |
| NM_020975.4:c.2451C>A , LRG_518t1:c.2451C>A | NP_066124.1:p.Arg817= | |
| XM_011540027.1:c.2451C>A | XP_011538329.1:p.Arg817= | |
| NM_001355216.1:c.1689C>A | NP_001342145.1:p.Arg563= | |
| NM_020630.5:c.2451C>A | NP_065681.1:p.Arg817= | |
| NM_020975.5:c.2451C>A | NP_066124.1:p.Arg817= | |
| NM_020975.6:c.2451C>A MANE Select | NP_066124.1:p.Arg817= | |
| NM_020630.6:c.2451C>A | NP_065681.1:p.Arg817= |