Linked Data
ClinVar Variation Id:
2650782
ClinVar RCV Id:
RCV003425554
dbSNP Id:
rs1416950365
gnomAD v2:
2-28999790-G-A
gnomAD v4:
2-28776924-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.28776924G>A , CM000664.2:g.28776924G>A | GRCh38 |
| NC_000002.11:g.28999790G>A , CM000664.1:g.28999790G>A | GRCh37 |
| NC_000002.10:g.28853294G>A | NCBI36 |
| NG_052878.1:g.30177G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418910.2:c.126G>A | ENSP00000388056.2:p.Arg42= | |
| ENST00000420282.6:c.126G>A | ENSP00000398839.2:p.Arg42= | |
| ENST00000427786.2:c.42G>A | ENSP00000394589.1:p.Arg14= | |
| ENST00000441461.6:c.126G>A | ENSP00000414918.2:p.Arg42= | |
| ENST00000455580.6:c.42G>A | ENSP00000390715.2:p.Arg14= | |
| ENST00000703171.1:c.126G>A | ENSP00000515217.1:p.Arg42= | |
| ENST00000703172.1:c.42G>A | ENSP00000515218.1:p.Arg14= | |
| ENST00000703173.1:c.126G>A | ENSP00000515219.1:p.Arg42= | |
| ENST00000703174.1:c.126G>A | ENSP00000515220.1:p.Arg42= | |
| ENST00000703176.1:c.93G>A | ENSP00000515221.1:p.Arg31= | |
| ENST00000703177.1:c.42G>A | ENSP00000515222.1:p.Arg14= | |
| ENST00000395366.3:c.126G>A MANE Select | ENSP00000378769.2:p.Arg42= | |
| ENST00000296122.10:c.126G>A | ENSP00000296122.6:p.Arg42= | |
| ENST00000358506.6:c.126G>A | ENSP00000351298.2:p.Arg42= | |
| ENST00000395366.2:c.126G>A | ENSP00000378769.2:p.Arg42= | |
| ENST00000420282.5:c.126G>A | ENSP00000398839.1:p.Arg42= | |
| ENST00000427786.1:c.42G>A | ENSP00000394589.1:p.Arg14= | |
| ENST00000441461.5:c.126G>A | ENSP00000414918.1:p.Arg42= | |
| ENST00000455580.5:c.42G>A | ENSP00000390715.1:p.Arg14= | |
| ENST00000464273.1:n.240G>A | ||
| NM_002709.2:c.126G>A | NP_002700.1:p.Arg42= | |
| NM_206876.1:c.126G>A | NP_996759.1:p.Arg42= | |
| NM_002709.3:c.126G>A MANE Select | NP_002700.1:p.Arg42= | |
| NM_206876.2:c.126G>A | NP_996759.1:p.Arg42= |