Linked Data
dbSNP Id:
rs1047733078
gnomAD v3:
12-7086396-G-T
gnomAD v4:
12-7086396-G-T
MyVariant Identifiers:
chr12:g.7086396G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7086396G>T , CM000674.2:g.7086396G>T | GRCh38 |
| NG_062465.1:g.11212C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647956.2:c.1100C>A MANE Select | ENSP00000497341.1:p.Ala367Asp | |
| ENST00000648162.1:n.1072C>A | ||
| ENST00000649804.1:c.194C>A | ENSP00000497938.1:p.Ala65Asp | |
| ENST00000535233.6:c.998C>A | ENSP00000438636.3:p.Ala333Asp | |
| ENST00000536053.6:c.1142C>A | ENSP00000444271.3:p.Ala381Asp | |
| ENST00000540394.5:n.2165C>A | ||
| ENST00000542285.5:c.1100C>A | ENSP00000438615.2:p.Ala367Asp | |
| ENST00000602298.2:n.1449C>A | ||
| NM_001733.4:c.1100C>A | NP_001724.3:p.Ala367Asp | |
| NM_001354346.1:c.1142C>A | NP_001341275.1:p.Ala381Asp | |
| NM_001733.6:c.1100C>A | NP_001724.4:p.Ala367Asp | |
| NM_001733.7:c.1100C>A MANE Select | NP_001724.4:p.Ala367Asp | |
| NM_001354346.2:c.1142C>A | NP_001341275.1:p.Ala381Asp |