Linked Data
ClinVar Variation Id:
789621
ClinVar RCV Id:
RCV000972286
dbSNP Id:
rs77900153
ExAC:
11:57156681 T / C
gnomAD v2:
11-57156681-T-C
gnomAD v3:
11-57389208-T-C
gnomAD v4:
11-57389208-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57389208T>C , CM000673.2:g.57389208T>C | GRCh38 |
| NC_000011.9:g.57156681T>C , CM000673.1:g.57156681T>C | GRCh37 |
| NC_000011.8:g.56913257T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311862.10:c.168A>G MANE Select | ENSP00000312134.5:p.Glu56= | |
| ENST00000311862.9:c.168A>G | ENSP00000312134.5:p.Glu56= | |
| ENST00000525955.1:c.168A>G | ENSP00000433016.1:p.Glu56= | |
| ENST00000528835.1:c.480A>G | ||
| ENST00000529411.1:c.483A>G | ENSP00000431536.1:p.Glu161= | |
| ENST00000530105.1:n.214A>G | ||
| ENST00000533605.5:c.168A>G | ENSP00000433231.1:p.Glu56= | |
| ENST00000534081.5:n.1028A>G | ||
| NM_001243245.2:c.168A>G | NP_001230174.1:p.Glu56= | |
| NM_001302926.1:c.168A>G | NP_001289855.1:p.Glu56= | |
| NM_001302927.1:c.168A>G | NP_001289856.1:p.Glu56= | |
| NM_002728.5:c.168A>G | NP_002719.3:p.Glu56= | |
| NM_002728.6:c.168A>G MANE Select | NP_002719.3:p.Glu56= | |
| NM_001243245.3:c.168A>G | NP_001230174.1:p.Glu56= | |
| NM_001302926.2:c.168A>G | NP_001289855.1:p.Glu56= | |
| NM_001302927.2:c.168A>G | NP_001289856.1:p.Glu56= |