Linked Data
ClinVar Variation Id:
1381503
ClinVar RCV Id:
RCV001895394
dbSNP Id:
rs199784156
ExAC:
19:6697682 C / T
gnomAD v2:
19-6697682-C-T
gnomAD v3:
19-6697671-C-T
gnomAD v4:
19-6697671-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697671C>T , CM000681.2:g.6697671C>T | GRCh38 |
| NC_000019.9:g.6697682C>T , CM000681.1:g.6697682C>T | GRCh37 |
| NC_000019.8:g.6648682C>T | NCBI36 |
| NG_009557.1:g.27981G>A , LRG_27:g.27981G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.912G>A | ||
| ENST00000695652.1:c.2441G>A | ENSP00000512083.1:p.Arg814Gln | |
| ENST00000695653.1:c.473G>A | ENSP00000512084.1:p.Arg158Gln | |
| ENST00000695654.1:c.1688G>A | ENSP00000512085.1:p.Arg563Gln | |
| ENST00000695655.1:c.1505G>A | ENSP00000512086.1:n.1505G>A | |
| ENST00000695692.1:n.1928G>A | ||
| ENST00000245907.11:c.2564G>A MANE Select | ENSP00000245907.4:p.Arg855Gln | |
| ENST00000245907.10:c.2564G>A | ENSP00000245907.4:p.Arg855Gln | |
| ENST00000594005.1:n.45G>A | ||
| ENST00000602053.1:n.612G>A | ||
| NM_000064.3:c.2564G>A | NP_000055.2:p.Arg855Gln | |
| NM_000064.4:c.2564G>A MANE Select | NP_000055.2:p.Arg855Gln |