Linked Data
dbSNP Id:
rs1343192038
gnomAD v3:
12-7086594-T-C
gnomAD v4:
12-7086594-T-C
MyVariant Identifiers:
chr12:g.7086594T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7086594T>C , CM000674.2:g.7086594T>C | GRCh38 |
| NG_062465.1:g.11014A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647956.2:c.1039-137A>G MANE Select | ENSP00000497341.1:n.1039-137A>G | |
| ENST00000648162.1:n.1011-137A>G | ||
| ENST00000649804.1:c.133-137A>G | ENSP00000497938.1:n.133-137A>G | |
| ENST00000535233.6:c.937-137A>G | ENSP00000438636.3:n.937-137A>G | |
| ENST00000536053.6:c.1081-137A>G | ENSP00000444271.3:n.1081-137A>G | |
| ENST00000540394.5:n.2104-137A>G | ||
| ENST00000542285.5:c.1039-137A>G | ENSP00000438615.2:n.1039-137A>G | |
| ENST00000602298.2:n.1251A>G | ||
| NM_001733.4:c.1039-137A>G | NP_001724.3:n.1039-137A>G | |
| NM_001354346.1:c.1081-137A>G | NP_001341275.1:n.1081-137A>G | |
| NM_001733.6:c.1039-137A>G | NP_001724.4:n.1039-137A>G | |
| NM_001733.7:c.1039-137A>G MANE Select | NP_001724.4:n.1039-137A>G | |
| NM_001354346.2:c.1081-137A>G | NP_001341275.1:n.1081-137A>G |