Linked Data
ClinVar Variation Id:
1640948
ClinVar RCV Id:
RCV002153195
dbSNP Id:
rs369986898
ExAC:
19:6697720 G / A
gnomAD v2:
19-6697720-G-A
gnomAD v3:
19-6697709-G-A
gnomAD v4:
19-6697709-G-A
COSMIC:
COSM159597
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697709G>A , CM000681.2:g.6697709G>A | GRCh38 |
| NC_000019.9:g.6697720G>A , CM000681.1:g.6697720G>A | GRCh37 |
| NC_000019.8:g.6648720G>A | NCBI36 |
| NG_009557.1:g.27943C>T , LRG_27:g.27943C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.874C>T | ||
| ENST00000695652.1:c.2403C>T | ENSP00000512083.1:p.Asn801= | |
| ENST00000695653.1:c.435C>T | ENSP00000512084.1:p.Asn145= | |
| ENST00000695654.1:c.1650C>T | ENSP00000512085.1:p.Asn550= | |
| ENST00000695655.1:c.1467C>T | ENSP00000512086.1:n.1467C>T | |
| ENST00000695692.1:n.1890C>T | ||
| ENST00000245907.11:c.2526C>T MANE Select | ENSP00000245907.4:p.Asn842= | |
| ENST00000245907.10:c.2526C>T | ENSP00000245907.4:p.Asn842= | |
| ENST00000594005.1:n.7C>T | ||
| ENST00000602053.1:n.574C>T | ||
| NM_000064.3:c.2526C>T | NP_000055.2:p.Asn842= | |
| NM_000064.4:c.2526C>T MANE Select | NP_000055.2:p.Asn842= |