Linked Data
dbSNP Id:
rs763294368
ExAC:
3:178960818 G / A
gnomAD v2:
3-178960818-G-A
gnomAD v3:
3-179243030-G-A
gnomAD v4:
3-179243030-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179243030G>A , CM000665.2:g.179243030G>A | GRCh38 |
| NC_000003.11:g.178960818G>A , CM000665.1:g.178960818G>A | GRCh37 |
| NC_000003.10:g.180443512G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392685.7:c.702C>T MANE Select | ENSP00000376451.2:p.Ser234= | |
| ENST00000314235.9:c.714C>T | ENSP00000319370.5:p.Ser238= | |
| ENST00000349697.2:c.708C>T | ENSP00000327866.2:p.Ser236= | |
| ENST00000392685.6:c.702C>T | ENSP00000376451.2:p.Ser234= | |
| ENST00000392686.6:c.648C>T | ENSP00000376452.2:p.Ser216= | |
| ENST00000485523.5:c.648C>T | ENSP00000418536.1:p.Ser216= | |
| ENST00000486944.2:c.152+103C>T | ENSP00000479162.1:n.152+103C>T | |
| ENST00000497599.5:c.453+1465C>T | ENSP00000417091.1:n.453+1465C>T | |
| NM_001163677.1:c.453+1465C>T | NP_001157149.1:n.453+1465C>T | |
| NM_014407.3:c.714C>T | NP_055222.3:p.Ser238= | |
| NM_171828.2:c.708C>T | NP_741979.1:p.Ser236= | |
| NM_171829.2:c.648C>T | NP_741980.1:p.Ser216= | |
| NM_171830.1:c.702C>T | NP_741981.1:p.Ser234= | |
| NR_028135.1:n.1590C>T | ||
| NM_001163677.2:c.453+1465C>T | NP_001157149.1:n.453+1465C>T | |
| NM_171828.3:c.708C>T | NP_741979.1:p.Ser236= | |
| NM_171829.3:c.648C>T | NP_741980.1:p.Ser216= | |
| NR_028135.2:n.1590C>T | ||
| NM_171830.2:c.702C>T MANE Select | NP_741981.1:p.Ser234= |