Linked Data
dbSNP Id:
rs778232736
ExAC:
19:6697704 G / A
gnomAD v2:
19-6697704-G-A
gnomAD v3:
19-6697693-G-A
gnomAD v4:
19-6697693-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697693G>A , CM000681.2:g.6697693G>A | GRCh38 |
| NC_000019.9:g.6697704G>A , CM000681.1:g.6697704G>A | GRCh37 |
| NC_000019.8:g.6648704G>A | NCBI36 |
| NG_009557.1:g.27959C>T , LRG_27:g.27959C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.890C>T | ||
| ENST00000695652.1:c.2419C>T | ENSP00000512083.1:p.Arg807Ter | |
| ENST00000695653.1:c.451C>T | ENSP00000512084.1:p.Arg151Ter | |
| ENST00000695654.1:c.1666C>T | ENSP00000512085.1:p.Arg556Ter | |
| ENST00000695655.1:c.1483C>T | ENSP00000512086.1:n.1483C>T | |
| ENST00000695692.1:n.1906C>T | ||
| ENST00000245907.11:c.2542C>T MANE Select | ENSP00000245907.4:p.Arg848Ter | |
| ENST00000245907.10:c.2542C>T | ENSP00000245907.4:p.Arg848Ter | |
| ENST00000594005.1:n.23C>T | ||
| ENST00000602053.1:n.590C>T | ||
| NM_000064.3:c.2542C>T | NP_000055.2:p.Arg848Ter | |
| NM_000064.4:c.2542C>T MANE Select | NP_000055.2:p.Arg848Ter |