Linked Data
ClinVar Variation Id:
750765
ClinVar RCV Id:
RCV000927766
dbSNP Id:
rs777078785
ExAC:
12:69050112 G / A
gnomAD v2:
12-69050112-G-A
gnomAD v3:
12-68656332-G-A
gnomAD v4:
12-68656332-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68656332G>A , CM000674.2:g.68656332G>A | GRCh38 |
| NC_000012.11:g.69050112G>A , CM000674.1:g.69050112G>A | GRCh37 |
| NC_000012.10:g.67336379G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250559.14:c.351G>A MANE Select | ENSP00000250559.9:p.Lys117= | |
| ENST00000250559.13:c.351G>A | ENSP00000250559.9:p.Lys117= | |
| ENST00000341355.9:c.351G>A | ENSP00000441275.1:p.Lys117= | |
| ENST00000378985.7:c.153G>A | ENSP00000368270.3:p.Lys51= | |
| ENST00000393436.9:c.351G>A | ENSP00000377085.5:p.Lys117= | |
| ENST00000425247.6:c.351G>A | ENSP00000401095.2:p.Lys117= | |
| ENST00000450214.6:c.225G>A | ENSP00000399986.2:p.Lys75= | |
| ENST00000453560.6:c.351G>A | ENSP00000444060.1:p.Lys117= | |
| ENST00000463493.5:n.329G>A | ||
| ENST00000535492.5:c.153G>A | ENSP00000443775.1:p.Lys51= | |
| ENST00000537460.5:c.351G>A | ENSP00000439966.1:p.Lys117= | |
| ENST00000538980.5:c.198G>A | ENSP00000444467.1:p.Lys66= | |
| ENST00000539091.5:c.225G>A | ENSP00000444830.1:p.Lys75= | |
| ENST00000540209.5:c.294G>A | ENSP00000446318.1:p.Lys98= | |
| ENST00000540781.5:c.351G>A | ENSP00000440466.1:p.Lys117= | |
| ENST00000541216.1:c.351G>A | ENSP00000443851.1:p.Lys117= | |
| ENST00000542145.5:c.210G>A | ENSP00000440014.1:p.Lys70= | |
| ENST00000543393.5:c.153G>A | ENSP00000445090.1:p.Lys51= | |
| ENST00000543697.5:c.325-769G>A | ENSP00000440708.1:n.325-769G>A | |
| ENST00000544639.1:n.450G>A | ||
| ENST00000545270.5:c.351G>A | ENSP00000437415.1:p.Lys117= | |
| NM_001010942.2:c.351G>A | NP_001010942.1:p.Lys117= | |
| NM_001251917.1:c.225G>A | NP_001238846.1:p.Lys75= | |
| NM_001251918.1:c.225G>A | NP_001238847.1:p.Lys75= | |
| NM_001251921.1:c.294G>A | NP_001238850.1:p.Lys98= | |
| NM_001251922.1:c.210G>A | NP_001238851.1:p.Lys70= | |
| NM_015646.5:c.351G>A | NP_056461.1:p.Lys117= | |
| NM_001010942.3:c.351G>A MANE Select | NP_001010942.1:p.Lys117= | |
| NM_001251917.2:c.225G>A | NP_001238846.1:p.Lys75= | |
| NM_001251918.2:c.225G>A | NP_001238847.1:p.Lys75= | |
| NM_001251921.2:c.294G>A | NP_001238850.1:p.Lys98= | |
| NM_001251922.2:c.210G>A | NP_001238851.1:p.Lys70= | |
| NM_015646.6:c.351G>A | NP_056461.1:p.Lys117= |