Linked Data
ClinVar Variation Id:
2460219
ClinVar RCV Id:
RCV004251358
dbSNP Id:
rs534141468
ExAC:
11:55579103 G / A
gnomAD v2:
11-55579103-G-A
gnomAD v3:
11-55811627-G-A
gnomAD v4:
11-55811627-G-A
COSMIC:
COSM1663266
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55811627G>A , CM000673.2:g.55811627G>A | GRCh38 |
| NC_000011.9:g.55579103G>A , CM000673.1:g.55579103G>A | GRCh37 |
| NC_000011.8:g.55335679G>A | NCBI36 |
| NG_052620.1:g.5261G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.161G>A MANE Select | ENSP00000485319.1:p.Arg54Gln | |
| ENST00000333973.3:c.161G>A | ENSP00000335529.2:p.Arg54Gln | |
| ENST00000623450.1:c.161G>A | ENSP00000485509.1:p.Arg54Gln | |
| ENST00000625203.1:c.161G>A | ENSP00000485319.1:p.Arg54Gln | |
| NM_001004738.1:c.161G>A | NP_001004738.1:p.Arg54Gln | |
| NM_001004738.2:c.161G>A MANE Select | NP_001004738.1:p.Arg54Gln |