Linked Data
ClinVar Variation Id:
17062
dbSNP Id:
rs121909585
gnomAD v4:
19-6692971-C-T
COSMIC:
COSM1751235
PubMed:
PMID:18796626
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6692971C>T , CM000681.2:g.6692971C>T | GRCh38 |
| NC_000019.9:g.6692982C>T , CM000681.1:g.6692982C>T | GRCh37 |
| NC_000019.8:g.6643982C>T | NCBI36 |
| NG_009557.1:g.32681G>A , LRG_27:g.32681G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695651.1:n.1691G>A | ||
| ENST00000695652.1:c.3220G>A | ENSP00000512083.1:p.Asp1074Asn | |
| ENST00000695653.1:c.1252G>A | ENSP00000512084.1:p.Asp418Asn | |
| ENST00000695654.1:c.2467G>A | ENSP00000512085.1:p.Asp823Asn | |
| ENST00000695655.1:c.2284G>A | ENSP00000512086.1:n.2284G>A | |
| ENST00000695692.1:n.2707G>A | ||
| ENST00000245907.11:c.3343G>A MANE Select | ENSP00000245907.4:p.Asp1115Asn | |
| ENST00000245907.10:c.3343G>A | ENSP00000245907.4:p.Asp1115Asn | |
| ENST00000598805.2:n.113G>A | ||
| NM_000064.3:c.3343G>A | NP_000055.2:p.Asp1115Asn | |
| NM_000064.4:c.3343G>A MANE Select | NP_000055.2:p.Asp1115Asn |