Linked Data
ClinVar Variation Id:
2414219
ClinVar RCV Id:
RCV003106552
dbSNP Id:
rs200597513
ExAC:
19:6682233 C / T
gnomAD v2:
19-6682233-C-T
gnomAD v3:
19-6682222-C-T
gnomAD v4:
19-6682222-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6682222C>T , CM000681.2:g.6682222C>T | GRCh38 |
| NC_000019.9:g.6682233C>T , CM000681.1:g.6682233C>T | GRCh37 |
| NC_000019.8:g.6633233C>T | NCBI36 |
| NG_009557.1:g.43430G>A , LRG_27:g.43430G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2528G>A | ||
| ENST00000695653.1:c.2089G>A | ENSP00000512084.1:p.Gly697Arg | |
| ENST00000695654.1:c.3205G>A | ENSP00000512085.1:p.Gly1069Arg | |
| ENST00000695689.1:c.151G>A | ENSP00000512101.1:n.151G>A | |
| ENST00000695690.1:n.371G>A | ||
| ENST00000695691.1:n.371G>A | ||
| ENST00000245907.11:c.4180G>A MANE Select | ENSP00000245907.4:p.Gly1394Arg | |
| ENST00000245907.10:c.4180G>A | ENSP00000245907.4:p.Gly1394Arg | |
| ENST00000596548.1:c.301G>A | ENSP00000469744.1:p.Gly101Arg | |
| ENST00000599899.5:n.1139G>A | ||
| ENST00000601008.1:c.242-4264G>A | ENSP00000471384.1:n.242-4264G>A | |
| NM_000064.3:c.4180G>A | NP_000055.2:p.Gly1394Arg | |
| NM_000064.4:c.4180G>A MANE Select | NP_000055.2:p.Gly1394Arg |