Linked Data
ClinVar Variation Id:
55387
ClinVar RCV Id:
RCV003415811
dbSNP Id:
rs80356896
gnomAD v2:
17-41215963-C-A
gnomAD v4:
17-43063946-C-A
PubMed:
PMID:9333265
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063946C>A , CM000679.2:g.43063946C>A | GRCh38 |
| NC_000017.10:g.41215963C>A , CM000679.1:g.41215963C>A | GRCh37 |
| NC_000017.9:g.38469489C>A | NCBI36 |
| NG_005905.2:g.154038G>T , LRG_292:g.154038G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5077G>T | ENSP00000417241.2:p.Glu1693Ter | |
| ENST00000470026.6:c.5080G>T | ENSP00000419274.2:p.Glu1694Ter | |
| ENST00000473961.6:c.4954G>T | ENSP00000420201.2:p.Glu1652Ter | |
| ENST00000476777.6:c.5074G>T | ENSP00000417554.2:p.Glu1692Ter | |
| ENST00000477152.6:c.5002G>T | ENSP00000419988.2:p.Glu1668Ter | |
| ENST00000478531.6:c.1768G>T | ENSP00000420412.2:p.Glu590Ter | |
| ENST00000489037.2:c.5002G>T | ENSP00000420781.2:p.Glu1668Ter | |
| ENST00000493919.6:c.1630G>T | ENSP00000418819.2:p.Glu544Ter | |
| ENST00000494123.6:c.5080G>T | ENSP00000419103.2:p.Glu1694Ter | |
| ENST00000497488.2:c.4192G>T | ENSP00000418986.2:p.Glu1398Ter | |
| ENST00000618469.2:c.5080G>T | ENSP00000478114.2:p.Glu1694Ter | |
| ENST00000634433.2:c.4957G>T | ENSP00000489431.2:p.Glu1653Ter | |
| ENST00000644379.2:c.5146G>T | ENSP00000496570.2:p.Glu1716Ter | |
| ENST00000644555.2:c.1630G>T | ENSP00000494614.2:p.Glu544Ter | |
| ENST00000652672.2:c.4939G>T | ENSP00000498906.2:p.Glu1647Ter | |
| ENST00000484087.6:c.1642G>T | ENSP00000419481.2:p.Glu548Ter | |
| ENST00000357654.9:c.5080G>T MANE Select | ENSP00000350283.3:p.Glu1694Ter | |
| ENST00000471181.7:c.5143G>T | ENSP00000418960.2:p.Glu1715Ter | |
| ENST00000644379.1:c.1467G>T | ||
| ENST00000352993.7:c.1654G>T | ENSP00000312236.5:p.Glu552Ter | |
| ENST00000357654.7:c.5080G>T | ENSP00000350283.3:p.Glu1694Ter | |
| ENST00000461221.5:c.*4863G>T | ENSP00000418548.1:n.*4863G>T | |
| ENST00000468300.5:c.1768G>T | ENSP00000417148.1:p.Glu590Ter | |
| ENST00000471181.6:c.5143G>T | ENSP00000418960.2:p.Glu1715Ter | |
| ENST00000478531.5:c.1768G>T | ENSP00000420412.1:p.Glu590Ter | |
| ENST00000484087.5:c.1393G>T | ENSP00000419481.1:p.Glu465Ter | |
| ENST00000491747.6:c.1768G>T | ENSP00000420705.2:p.Glu590Ter | |
| ENST00000493795.5:c.4939G>T | ENSP00000418775.1:p.Glu1647Ter | |
| ENST00000493919.5:c.1630G>T | ENSP00000418819.1:p.Glu544Ter | |
| ENST00000586385.5:c.10G>T | ENSP00000465818.1:p.Glu4Ter | |
| ENST00000591534.5:c.553G>T | ENSP00000467329.1:p.Glu185Ter | |
| ENST00000591849.5:c.-98-13756G>T | ENSP00000465347.1:n.-98-13756G>T | |
| NM_007294.3:c.5080G>T , LRG_292t1:c.5080G>T | NP_009225.1:p.Glu1694Ter | |
| NM_007297.3:c.4939G>T | NP_009228.2:p.Glu1647Ter | |
| NM_007298.3:c.1768G>T | NP_009229.2:p.Glu590Ter | |
| NM_007299.3:c.1768G>T | NP_009230.2:p.Glu590Ter | |
| NM_007300.3:c.5143G>T | NP_009231.2:p.Glu1715Ter | |
| NR_027676.1:n.5216G>T | ||
| NM_007294.4:c.5080G>T MANE Select | NP_009225.1:p.Glu1694Ter | |
| NM_007297.4:c.4939G>T | NP_009228.2:p.Glu1647Ter | |
| NM_007299.4:c.1768G>T | NP_009230.2:p.Glu590Ter | |
| NM_007300.4:c.5143G>T | NP_009231.2:p.Glu1715Ter | |
| NR_027676.2:n.5257G>T |