Linked Data
ClinVar Variation Id:
55513
ClinVar RCV Id:
RCV000048917
RCV000120264
RCV000166677
RCV000409270
RCV000657045
RCV001353476
RCV003492393
dbSNP Id:
rs397509257
ExAC:
17:41203106 T / C
gnomAD v2:
17-41203106-T-C
gnomAD v3:
17-43051089-T-C
gnomAD v4:
17-43051089-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43051089T>C , CM000679.2:g.43051089T>C | GRCh38 |
| NC_000017.10:g.41203106T>C , CM000679.1:g.41203106T>C | GRCh37 |
| NC_000017.9:g.38456632T>C | NCBI36 |
| NG_005905.2:g.166895A>G , LRG_292:g.166895A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5303A>G | ENSP00000417241.2:p.Tyr1768Cys | |
| ENST00000470026.6:c.5306A>G | ENSP00000419274.2:p.Tyr1769Cys | |
| ENST00000473961.6:c.5180A>G | ENSP00000420201.2:p.Tyr1727Cys | |
| ENST00000476777.6:c.5300A>G | ENSP00000417554.2:p.Tyr1767Cys | |
| ENST00000477152.6:c.5228A>G | ENSP00000419988.2:p.Tyr1743Cys | |
| ENST00000478531.6:c.1994A>G | ENSP00000420412.2:p.Tyr665Cys | |
| ENST00000489037.2:c.5228A>G | ENSP00000420781.2:p.Tyr1743Cys | |
| ENST00000493919.6:c.1856A>G | ENSP00000418819.2:p.Tyr619Cys | |
| ENST00000494123.6:c.5306A>G | ENSP00000419103.2:p.Tyr1769Cys | |
| ENST00000497488.2:c.4418A>G | ENSP00000418986.2:p.Tyr1473Cys | |
| ENST00000618469.2:c.5306A>G | ENSP00000478114.2:p.Tyr1769Cys | |
| ENST00000634433.2:c.5183A>G | ENSP00000489431.2:p.Tyr1728Cys | |
| ENST00000644379.2:c.5372A>G | ENSP00000496570.2:p.Tyr1791Cys | |
| ENST00000644555.2:c.1856A>G | ENSP00000494614.2:p.Tyr619Cys | |
| ENST00000652672.2:c.5165A>G | ENSP00000498906.2:p.Tyr1722Cys | |
| ENST00000484087.6:c.1868A>G | ENSP00000419481.2:p.Tyr623Cys | |
| ENST00000357654.9:c.5306A>G MANE Select | ENSP00000350283.3:p.Tyr1769Cys | |
| ENST00000471181.7:c.5369A>G | ENSP00000418960.2:p.Tyr1790Cys | |
| ENST00000644379.1:c.1693A>G | ||
| ENST00000352993.7:c.1880A>G | ENSP00000312236.5:p.Tyr627Cys | |
| ENST00000357654.7:c.5306A>G | ENSP00000350283.3:p.Tyr1769Cys | |
| ENST00000461221.5:c.*5089A>G | ENSP00000418548.1:n.*5089A>G | |
| ENST00000468300.5:c.1994A>G | ENSP00000417148.1:p.Tyr665Cys | |
| ENST00000471181.6:c.5369A>G | ENSP00000418960.2:p.Tyr1790Cys | |
| ENST00000491747.6:c.1994A>G | ENSP00000420705.2:p.Tyr665Cys | |
| ENST00000493795.5:c.5165A>G | ENSP00000418775.1:p.Tyr1722Cys | |
| ENST00000586385.5:c.236A>G | ENSP00000465818.1:p.Tyr79Cys | |
| ENST00000591534.5:c.779A>G | ENSP00000467329.1:p.Tyr260Cys | |
| ENST00000591849.5:c.-98-899A>G | ENSP00000465347.1:n.-98-899A>G | |
| NM_007294.3:c.5306A>G , LRG_292t1:c.5306A>G | NP_009225.1:p.Tyr1769Cys | |
| NM_007297.3:c.5165A>G | NP_009228.2:p.Tyr1722Cys | |
| NM_007298.3:c.1994A>G | NP_009229.2:p.Tyr665Cys | |
| NM_007299.3:c.1994A>G | NP_009230.2:p.Tyr665Cys | |
| NM_007300.3:c.5369A>G | NP_009231.2:p.Tyr1790Cys | |
| NR_027676.1:n.5442A>G | ||
| NM_007294.4:c.5306A>G MANE Select | NP_009225.1:p.Tyr1769Cys | |
| NM_007297.4:c.5165A>G | NP_009228.2:p.Tyr1722Cys | |
| NM_007299.4:c.1994A>G | NP_009230.2:p.Tyr665Cys | |
| NM_007300.4:c.5369A>G | NP_009231.2:p.Tyr1790Cys | |
| NR_027676.2:n.5483A>G |