Linked Data
ClinVar Variation Id:
2828850
ClinVar RCV Id:
RCV003686114
dbSNP Id:
rs1967571311
gnomAD v3:
19-6697756-G-A
gnomAD v4:
19-6697756-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697756G>A , CM000681.2:g.6697756G>A | GRCh38 |
| NC_000019.9:g.6697767G>A , CM000681.1:g.6697767G>A | GRCh37 |
| NC_000019.8:g.6648767G>A | NCBI36 |
| NG_009557.1:g.27896C>T , LRG_27:g.27896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.827C>T | ||
| ENST00000695652.1:c.2356C>T | ENSP00000512083.1:p.Gln786Ter | |
| ENST00000695653.1:c.388C>T | ENSP00000512084.1:p.Gln130Ter | |
| ENST00000695654.1:c.1603C>T | ENSP00000512085.1:p.Gln535Ter | |
| ENST00000695655.1:c.1420C>T | ENSP00000512086.1:n.1420C>T | |
| ENST00000695692.1:n.1843C>T | ||
| ENST00000245907.11:c.2479C>T MANE Select | ENSP00000245907.4:p.Gln827Ter | |
| ENST00000245907.10:c.2479C>T | ENSP00000245907.4:p.Gln827Ter | |
| ENST00000602053.1:n.527C>T | ||
| NM_000064.3:c.2479C>T | NP_000055.2:p.Gln827Ter | |
| NM_000064.4:c.2479C>T MANE Select | NP_000055.2:p.Gln827Ter |