Linked Data
ClinVar Variation Id:
1719791
ClinVar RCV Id:
RCV002303977
dbSNP Id:
rs776829633
ExAC:
12:103306589 T / C
gnomAD v2:
12-103306589-T-C
gnomAD v4:
12-102912811-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912811T>C , CM000674.2:g.102912811T>C | GRCh38 |
| NC_000012.11:g.103306589T>C , CM000674.1:g.103306589T>C | GRCh37 |
| NC_000012.10:g.101830719T>C | NCBI36 |
| NG_008690.1:g.9792A>G | |
| NG_008690.2:g.50600A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.148A>G MANE Select | ENSP00000448059.1:p.Lys50Glu | |
| ENST00000307000.7:c.133A>G | ENSP00000303500.2:p.Lys45Glu | |
| ENST00000546844.1:c.148A>G | ENSP00000446658.1:p.Lys50Glu | |
| ENST00000548677.2:n.235A>G | ||
| ENST00000548928.1:n.70A>G | ||
| ENST00000549111.5:n.244A>G | ||
| ENST00000550978.6:c.132A>G | ||
| ENST00000551337.5:c.148A>G | ENSP00000447620.1:p.Lys50Glu | |
| ENST00000551988.5:n.237A>G | ||
| ENST00000553106.5:c.148A>G | ENSP00000448059.1:p.Lys50Glu | |
| ENST00000635500.1:n.116A>G | ||
| NM_000277.1:c.148A>G | NP_000268.1:p.Lys50Glu | |
| XM_011538422.1:c.148A>G | XP_011536724.1:p.Lys50Glu | |
| NM_000277.2:c.148A>G | NP_000268.1:p.Lys50Glu | |
| NM_001354304.1:c.148A>G | NP_001341233.1:p.Lys50Glu | |
| XM_017019370.2:c.148A>G | XP_016874859.1:p.Lys50Glu | |
| NM_000277.3:c.148A>G MANE Select | NP_000268.1:p.Lys50Glu | |
| NM_001354304.2:c.148A>G | NP_001341233.1:p.Lys50Glu |