Linked Data
dbSNP Id:
rs570868219
ExAC:
3:178960786 C / T
gnomAD v2:
3-178960786-C-T
gnomAD v3:
3-179242998-C-T
gnomAD v4:
3-179242998-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179242998C>T , CM000665.2:g.179242998C>T | GRCh38 |
| NC_000003.11:g.178960786C>T , CM000665.1:g.178960786C>T | GRCh37 |
| NC_000003.10:g.180443480C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392685.7:c.734G>A MANE Select | ENSP00000376451.2:p.Arg245Lys | |
| ENST00000314235.9:c.746G>A | ENSP00000319370.5:p.Arg249Lys | |
| ENST00000349697.2:c.740G>A | ENSP00000327866.2:p.Arg247Lys | |
| ENST00000392685.6:c.734G>A | ENSP00000376451.2:p.Arg245Lys | |
| ENST00000392686.6:c.680G>A | ENSP00000376452.2:p.Arg227Lys | |
| ENST00000485523.5:c.680G>A | ENSP00000418536.1:p.Arg227Lys | |
| ENST00000486944.2:c.152+135G>A | ENSP00000479162.1:n.152+135G>A | |
| ENST00000497599.5:c.453+1497G>A | ENSP00000417091.1:n.453+1497G>A | |
| NM_001163677.1:c.453+1497G>A | NP_001157149.1:n.453+1497G>A | |
| NM_014407.3:c.746G>A | NP_055222.3:p.Arg249Lys | |
| NM_171828.2:c.740G>A | NP_741979.1:p.Arg247Lys | |
| NM_171829.2:c.680G>A | NP_741980.1:p.Arg227Lys | |
| NM_171830.1:c.734G>A | NP_741981.1:p.Arg245Lys | |
| NR_028135.1:n.1622G>A | ||
| NM_001163677.2:c.453+1497G>A | NP_001157149.1:n.453+1497G>A | |
| NM_171828.3:c.740G>A | NP_741979.1:p.Arg247Lys | |
| NM_171829.3:c.680G>A | NP_741980.1:p.Arg227Lys | |
| NR_028135.2:n.1622G>A | ||
| NM_171830.2:c.734G>A MANE Select | NP_741981.1:p.Arg245Lys |