Linked Data
ClinVar Variation Id:
627000
dbSNP Id:
rs748630360
ExAC:
3:93646180 T / C
gnomAD v2:
3-93646180-T-C
gnomAD v3:
3-93927336-T-C
gnomAD v4:
3-93927336-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93927336T>C , CM000665.2:g.93927336T>C | GRCh38 |
| NC_000003.11:g.93646180T>C , CM000665.1:g.93646180T>C | GRCh37 |
| NC_000003.10:g.95128870T>C | NCBI36 |
| NG_009813.1:g.51755A>G , LRG_572:g.51755A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.148A>G | ENSP00000330021.7:p.Lys50Glu | |
| ENST00000394236.9:c.148A>G MANE Select | ENSP00000377783.3:p.Lys50Glu | |
| ENST00000407433.6:c.148A>G | ENSP00000385794.2:p.Lys50Glu | |
| ENST00000472684.2:c.-246A>G | ENSP00000419616.2:n.-246A>G | |
| ENST00000647936.1:c.148A>G | ENSP00000496822.1:p.Lys50Glu | |
| ENST00000648381.1:n.316A>G | ||
| ENST00000648853.1:c.106A>G | ENSP00000497262.1:p.Lys36Glu | |
| ENST00000649103.1:c.127A>G | ENSP00000497962.1:p.Lys43Glu | |
| ENST00000650591.1:c.244A>G | ENSP00000497376.1:p.Lys82Glu | |
| ENST00000348974.4:c.244A>G | ENSP00000330021.6:p.Lys82Glu | |
| ENST00000394236.7:c.148A>G | ENSP00000377783.3:p.Lys50Glu | |
| ENST00000407433.5:c.-246A>G | ENSP00000385794.1:n.-246A>G | |
| ENST00000472684.1:c.-246A>G | ENSP00000419616.1:n.-246A>G | |
| NM_000313.3:c.148A>G , LRG_572t1:c.148A>G | NP_000304.2:p.Lys50Glu | |
| NM_001314077.1:c.244A>G , LRG_572t2:c.244A>G | NP_001301006.1:p.Lys82Glu | |
| NM_000313.4:c.148A>G MANE Select | NP_000304.2:p.Lys50Glu | |
| NM_001314077.2:c.244A>G | NP_001301006.1:p.Lys82Glu |