Linked Data
ClinVar Variation Id:
774477
ClinVar RCV Id:
RCV000954461
dbSNP Id:
rs142141239
ExAC:
11:101818803 C / G
gnomAD v2:
11-101818803-C-G
gnomAD v3:
11-101948072-C-G
gnomAD v4:
11-101948072-C-G
COSMIC:
COSM922186
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101948072C>G , CM000673.2:g.101948072C>G | GRCh38 |
| NC_000011.9:g.101818803C>G , CM000673.1:g.101818803C>G | GRCh37 |
| NC_000011.8:g.101324013C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263468.13:c.436C>G MANE Select | ENSP00000263468.8:p.Gln146Glu | |
| ENST00000670091.1:c.436C>G | ENSP00000499679.1:p.Gln146Glu | |
| ENST00000670318.1:c.436C>G | ENSP00000499404.1:p.Gln146Glu | |
| ENST00000263468.12:c.436C>G | ENSP00000263468.8:p.Gln146Glu | |
| ENST00000532529.1:c.78C>G | ||
| NM_020802.3:c.436C>G | NP_065853.3:p.Gln146Glu | |
| XM_005271627.3:c.436C>G | XP_005271684.2:p.Gln146Glu | |
| NM_001363543.1:c.-844C>G | NP_001350472.1:n.-844C>G | |
| XM_005271627.5:c.436C>G | XP_005271684.2:p.Gln146Glu | |
| NM_001363543.2:c.-844C>G | NP_001350472.1:n.-844C>G | |
| NM_020802.4:c.436C>G MANE Select | NP_065853.3:p.Gln146Glu |