Linked Data
dbSNP Id:
rs1280872786
gnomAD v3:
3-179243063-A-T
gnomAD v4:
3-179243063-A-T
MyVariant Identifiers:
chr3:g.178960851A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179243063A>T , CM000665.2:g.179243063A>T | GRCh38 |
| NC_000003.11:g.178960851A>T , CM000665.1:g.178960851A>T | GRCh37 |
| NC_000003.10:g.180443545A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392685.7:c.669T>A MANE Select | ENSP00000376451.2:p.Ile223= | |
| ENST00000314235.9:c.681T>A | ENSP00000319370.5:p.Ile227= | |
| ENST00000349697.2:c.675T>A | ENSP00000327866.2:p.Ile225= | |
| ENST00000392685.6:c.669T>A | ENSP00000376451.2:p.Ile223= | |
| ENST00000392686.6:c.615T>A | ENSP00000376452.2:p.Ile205= | |
| ENST00000485523.5:c.615T>A | ENSP00000418536.1:p.Ile205= | |
| ENST00000486944.2:c.152+70T>A | ENSP00000479162.1:n.152+70T>A | |
| ENST00000497599.5:c.453+1432T>A | ENSP00000417091.1:n.453+1432T>A | |
| NM_001163677.1:c.453+1432T>A | NP_001157149.1:n.453+1432T>A | |
| NM_014407.3:c.681T>A | NP_055222.3:p.Ile227= | |
| NM_171828.2:c.675T>A | NP_741979.1:p.Ile225= | |
| NM_171829.2:c.615T>A | NP_741980.1:p.Ile205= | |
| NM_171830.1:c.669T>A | NP_741981.1:p.Ile223= | |
| NR_028135.1:n.1557T>A | ||
| NM_001163677.2:c.453+1432T>A | NP_001157149.1:n.453+1432T>A | |
| NM_171828.3:c.675T>A | NP_741979.1:p.Ile225= | |
| NM_171829.3:c.615T>A | NP_741980.1:p.Ile205= | |
| NR_028135.2:n.1557T>A | ||
| NM_171830.2:c.669T>A MANE Select | NP_741981.1:p.Ile223= |