Linked Data
dbSNP Id:
rs1875236425
gnomAD v3:
12-102852892-C-T
gnomAD v4:
12-102852892-C-T
MyVariant Identifiers:
chr12:g.103246670C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852892C>T , CM000674.2:g.102852892C>T | GRCh38 |
| NC_000012.11:g.103246670C>T , CM000674.1:g.103246670C>T | GRCh37 |
| NC_000012.10:g.101770800C>T | NCBI36 |
| NG_008690.1:g.69711G>A | |
| NG_008690.2:g.110519G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.765G>A MANE Select | ENSP00000448059.1:p.Leu255= | |
| ENST00000307000.7:c.750G>A | ENSP00000303500.2:p.Leu250= | |
| ENST00000549247.6:n.524G>A | ||
| ENST00000553106.5:c.765G>A | ENSP00000448059.1:p.Leu255= | |
| NM_000277.1:c.765G>A | NP_000268.1:p.Leu255= | |
| XM_011538422.1:c.765G>A | XP_011536724.1:p.Leu255= | |
| NM_000277.2:c.765G>A | NP_000268.1:p.Leu255= | |
| NM_001354304.1:c.765G>A | NP_001341233.1:p.Leu255= | |
| NM_000277.3:c.765G>A MANE Select | NP_000268.1:p.Leu255= | |
| NM_001354304.2:c.765G>A | NP_001341233.1:p.Leu255= |