Linked Data
dbSNP Id:
rs146310766
ExAC:
3:178960782 A / C
gnomAD v2:
3-178960782-A-C
gnomAD v3:
3-179242994-A-C
gnomAD v4:
3-179242994-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179242994A>C , CM000665.2:g.179242994A>C | GRCh38 |
| NC_000003.11:g.178960782A>C , CM000665.1:g.178960782A>C | GRCh37 |
| NC_000003.10:g.180443476A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392685.7:c.738T>G MANE Select | ENSP00000376451.2:p.Asp246Glu | |
| ENST00000314235.9:c.750T>G | ENSP00000319370.5:p.Asp250Glu | |
| ENST00000349697.2:c.744T>G | ENSP00000327866.2:p.Asp248Glu | |
| ENST00000392685.6:c.738T>G | ENSP00000376451.2:p.Asp246Glu | |
| ENST00000392686.6:c.684T>G | ENSP00000376452.2:p.Asp228Glu | |
| ENST00000485523.5:c.684T>G | ENSP00000418536.1:p.Asp228Glu | |
| ENST00000486944.2:c.152+139T>G | ENSP00000479162.1:n.152+139T>G | |
| ENST00000497599.5:c.453+1501T>G | ENSP00000417091.1:n.453+1501T>G | |
| NM_001163677.1:c.453+1501T>G | NP_001157149.1:n.453+1501T>G | |
| NM_014407.3:c.750T>G | NP_055222.3:p.Asp250Glu | |
| NM_171828.2:c.744T>G | NP_741979.1:p.Asp248Glu | |
| NM_171829.2:c.684T>G | NP_741980.1:p.Asp228Glu | |
| NM_171830.1:c.738T>G | NP_741981.1:p.Asp246Glu | |
| NR_028135.1:n.1626T>G | ||
| NM_001163677.2:c.453+1501T>G | NP_001157149.1:n.453+1501T>G | |
| NM_171828.3:c.744T>G | NP_741979.1:p.Asp248Glu | |
| NM_171829.3:c.684T>G | NP_741980.1:p.Asp228Glu | |
| NR_028135.2:n.1626T>G | ||
| NM_171830.2:c.738T>G MANE Select | NP_741981.1:p.Asp246Glu |