Linked Data
ClinVar Variation Id:
1405086
ClinVar RCV Id:
RCV001927904
dbSNP Id:
rs746085199
ExAC:
19:6697724 C / T
gnomAD v2:
19-6697724-C-T
gnomAD v3:
19-6697713-C-T
gnomAD v4:
19-6697713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697713C>T , CM000681.2:g.6697713C>T | GRCh38 |
| NC_000019.9:g.6697724C>T , CM000681.1:g.6697724C>T | GRCh37 |
| NC_000019.8:g.6648724C>T | NCBI36 |
| NG_009557.1:g.27939G>A , LRG_27:g.27939G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.870G>A | ||
| ENST00000695652.1:c.2399G>A | ENSP00000512083.1:p.Arg800Gln | |
| ENST00000695653.1:c.431G>A | ENSP00000512084.1:p.Arg144Gln | |
| ENST00000695654.1:c.1646G>A | ENSP00000512085.1:p.Arg549Gln | |
| ENST00000695655.1:c.1463G>A | ENSP00000512086.1:n.1463G>A | |
| ENST00000695692.1:n.1886G>A | ||
| ENST00000245907.11:c.2522G>A MANE Select | ENSP00000245907.4:p.Arg841Gln | |
| ENST00000245907.10:c.2522G>A | ENSP00000245907.4:p.Arg841Gln | |
| ENST00000594005.1:n.3G>A | ||
| ENST00000602053.1:n.570G>A | ||
| NM_000064.3:c.2522G>A | NP_000055.2:p.Arg841Gln | |
| NM_000064.4:c.2522G>A MANE Select | NP_000055.2:p.Arg841Gln |