Linked Data
dbSNP Id:
rs1874536169
gnomAD v4:
12-102840413-A-G
MyVariant Identifiers:
chr12:g.103234191A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840413A>G , CM000674.2:g.102840413A>G | GRCh38 |
| NC_000012.11:g.103234191A>G , CM000674.1:g.103234191A>G | GRCh37 |
| NC_000012.10:g.101758321A>G | NCBI36 |
| NG_008690.1:g.82190T>C | |
| NG_008690.2:g.122998T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1302T>C MANE Select | ENSP00000448059.1:p.Ala434= | |
| ENST00000307000.7:c.1287T>C | ENSP00000303500.2:p.Ala429= | |
| ENST00000551114.2:n.964T>C | ||
| ENST00000553106.5:c.1302T>C | ENSP00000448059.1:p.Ala434= | |
| ENST00000635477.1:c.406T>C | ||
| ENST00000635528.1:n.817T>C | ||
| NM_000277.1:c.1302T>C | NP_000268.1:p.Ala434= | |
| XM_011538422.1:c.1245T>C | XP_011536724.1:p.Ala415= | |
| NM_000277.2:c.1302T>C | NP_000268.1:p.Ala434= | |
| NM_001354304.1:c.1302T>C | NP_001341233.1:p.Ala434= | |
| NM_000277.3:c.1302T>C MANE Select | NP_000268.1:p.Ala434= | |
| NM_001354304.2:c.1302T>C | NP_001341233.1:p.Ala434= |