Linked Data
ClinVar Variation Id:
102851
dbSNP Id:
rs142934616
ExAC:
12:103246615 T / C
gnomAD v2:
12-103246615-T-C
gnomAD v3:
12-102852837-T-C
gnomAD v4:
12-102852837-T-C
ERepo:
CA229786/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852837T>C , CM000674.2:g.102852837T>C | GRCh38 |
| NC_000012.11:g.103246615T>C , CM000674.1:g.103246615T>C | GRCh37 |
| NC_000012.10:g.101770745T>C | NCBI36 |
| NG_008690.1:g.69766A>G | |
| NG_008690.2:g.110574A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.820A>G MANE Select | ENSP00000448059.1:p.Lys274Glu | |
| ENST00000307000.7:c.805A>G | ENSP00000303500.2:p.Lys269Glu | |
| ENST00000549247.6:n.579A>G | ||
| ENST00000553106.5:c.820A>G | ENSP00000448059.1:p.Lys274Glu | |
| NM_000277.1:c.820A>G | NP_000268.1:p.Lys274Glu | |
| XM_011538422.1:c.820A>G | XP_011536724.1:p.Lys274Glu | |
| NM_000277.2:c.820A>G | NP_000268.1:p.Lys274Glu | |
| NM_001354304.1:c.820A>G | NP_001341233.1:p.Lys274Glu | |
| NM_000277.3:c.820A>G MANE Select | NP_000268.1:p.Lys274Glu | |
| NM_001354304.2:c.820A>G | NP_001341233.1:p.Lys274Glu |