Linked Data
dbSNP Id:
rs929273245
gnomAD v4:
12-7086387-C-A
MyVariant Identifiers:
chr12:g.7086387C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7086387C>A , CM000674.2:g.7086387C>A | GRCh38 |
| NG_062465.1:g.11221G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647956.2:c.1109G>T MANE Select | ENSP00000497341.1:p.Arg370Ile | |
| ENST00000648162.1:n.1081G>T | ||
| ENST00000649804.1:c.203G>T | ENSP00000497938.1:p.Arg68Ile | |
| ENST00000535233.6:c.1007G>T | ENSP00000438636.3:p.Arg336Ile | |
| ENST00000536053.6:c.1151G>T | ENSP00000444271.3:p.Arg384Ile | |
| ENST00000540394.5:n.2174G>T | ||
| ENST00000542285.5:c.1109G>T | ENSP00000438615.2:p.Arg370Ile | |
| ENST00000602298.2:n.1458G>T | ||
| NM_001733.4:c.1109G>T | NP_001724.3:p.Arg370Ile | |
| NM_001354346.1:c.1151G>T | NP_001341275.1:p.Arg384Ile | |
| NM_001733.6:c.1109G>T | NP_001724.4:p.Arg370Ile | |
| NM_001733.7:c.1109G>T MANE Select | NP_001724.4:p.Arg370Ile | |
| NM_001354346.2:c.1151G>T | NP_001341275.1:p.Arg384Ile |