Linked Data
ClinVar Variation Id:
2174864
ClinVar RCV Id:
RCV002588210
dbSNP Id:
rs922383490
gnomAD v2:
1-27023155-A-C
gnomAD v3:
1-26696664-A-C
gnomAD v4:
1-26696664-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696664A>C , CM000663.2:g.26696664A>C | GRCh38 |
| NC_000001.10:g.27023155A>C , CM000663.1:g.27023155A>C | GRCh37 |
| NC_000001.9:g.26895742A>C | NCBI36 |
| NG_029965.1:g.5634A>C , LRG_875:g.5634A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.261A>C MANE Select | ENSP00000320485.7:p.Gly87= | |
| ENST00000430799.7:c.-13+3047A>C | ENSP00000390317.3:n.-13+3047A>C | |
| ENST00000637465.1:c.-13+564A>C | ENSP00000490650.1:n.-13+564A>C | |
| ENST00000324856.11:c.261A>C | ENSP00000320485.7:p.Gly87= | |
| ENST00000457599.6:c.261A>C | ENSP00000387636.2:p.Gly87= | |
| NM_006015.4:c.261A>C , LRG_875t1:c.261A>C | NP_006006.3:p.Gly87= | |
| NM_139135.2:c.261A>C | NP_624361.1:p.Gly87= | |
| NM_006015.5:c.261A>C | NP_006006.3:p.Gly87= | |
| NM_139135.3:c.261A>C | NP_624361.1:p.Gly87= | |
| NM_006015.6:c.261A>C MANE Select | NP_006006.3:p.Gly87= | |
| NM_139135.4:c.261A>C | NP_624361.1:p.Gly87= |