Linked Data
dbSNP Id:
rs1057519578
gnomAD v3:
12-7086404-C-T
gnomAD v4:
12-7086404-C-T
MyVariant Identifiers:
chr12:g.7086404C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7086404C>T , CM000674.2:g.7086404C>T | GRCh38 |
| NG_062465.1:g.11204G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647956.2:c.1092G>A MANE Select | ENSP00000497341.1:p.Trp364Ter | |
| ENST00000648162.1:n.1064G>A | ||
| ENST00000649804.1:c.186G>A | ENSP00000497938.1:p.Trp62Ter | |
| ENST00000535233.6:c.990G>A | ENSP00000438636.3:p.Trp330Ter | |
| ENST00000536053.6:c.1134G>A | ENSP00000444271.3:p.Trp378Ter | |
| ENST00000540394.5:n.2157G>A | ||
| ENST00000542285.5:c.1092G>A | ENSP00000438615.2:p.Trp364Ter | |
| ENST00000602298.2:n.1441G>A | ||
| NM_001733.4:c.1092G>A | NP_001724.3:p.Trp364Ter | |
| NM_001354346.1:c.1134G>A | NP_001341275.1:p.Trp378Ter | |
| NM_001733.6:c.1092G>A | NP_001724.4:p.Trp364Ter | |
| NM_001733.7:c.1092G>A MANE Select | NP_001724.4:p.Trp364Ter | |
| NM_001354346.2:c.1134G>A | NP_001341275.1:p.Trp378Ter |