Linked Data
ClinVar Variation Id:
55581
dbSNP Id:
rs397509284
ExAC:
17:41199682 C / T
CIViC:
CA003600
PubMed:
PMID:15365993
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43047665C>T , CM000679.2:g.43047665C>T | GRCh38 |
| NC_000017.10:g.41199682C>T , CM000679.1:g.41199682C>T | GRCh37 |
| NC_000017.9:g.38453208C>T | NCBI36 |
| NG_005905.2:g.170319G>A , LRG_292:g.170319G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5442G>A | ENSP00000417241.2:p.Trp1814Ter | |
| ENST00000470026.6:c.5445G>A | ENSP00000419274.2:p.Trp1815Ter | |
| ENST00000473961.6:c.5319G>A | ENSP00000420201.2:p.Trp1773Ter | |
| ENST00000476777.6:c.5439G>A | ENSP00000417554.2:p.Trp1813Ter | |
| ENST00000477152.6:c.5367G>A | ENSP00000419988.2:p.Trp1789Ter | |
| ENST00000478531.6:c.2133G>A | ENSP00000420412.2:p.Trp711Ter | |
| ENST00000489037.2:c.5367G>A | ENSP00000420781.2:p.Trp1789Ter | |
| ENST00000493919.6:c.1995G>A | ENSP00000418819.2:p.Trp665Ter | |
| ENST00000494123.6:c.5445G>A | ENSP00000419103.2:p.Trp1815Ter | |
| ENST00000497488.2:c.4557G>A | ENSP00000418986.2:p.Trp1519Ter | |
| ENST00000618469.2:c.5445G>A | ENSP00000478114.2:p.Trp1815Ter | |
| ENST00000634433.2:c.5322G>A | ENSP00000489431.2:p.Trp1774Ter | |
| ENST00000644379.2:c.5511G>A | ENSP00000496570.2:p.Trp1837Ter | |
| ENST00000644555.2:c.1995G>A | ENSP00000494614.2:p.Trp665Ter | |
| ENST00000652672.2:c.5304G>A | ENSP00000498906.2:p.Trp1768Ter | |
| ENST00000484087.6:c.2007G>A | ENSP00000419481.2:p.Trp669Ter | |
| ENST00000700081.1:n.1328G>A | ||
| ENST00000700082.1:n.809G>A | ||
| ENST00000357654.9:c.5445G>A MANE Select | ENSP00000350283.3:p.Trp1815Ter | |
| ENST00000471181.7:c.5508G>A | ENSP00000418960.2:p.Trp1836Ter | |
| ENST00000644379.1:c.1832G>A | ||
| ENST00000352993.7:c.2019G>A | ENSP00000312236.5:p.Trp673Ter | |
| ENST00000357654.7:c.5445G>A | ENSP00000350283.3:p.Trp1815Ter | |
| ENST00000461221.5:c.*5228G>A | ENSP00000418548.1:n.*5228G>A | |
| ENST00000468300.5:c.2059G>A | ENSP00000417148.1:p.Asp687Asn | |
| ENST00000471181.6:c.5508G>A | ENSP00000418960.2:p.Trp1836Ter | |
| ENST00000491747.6:c.2133G>A | ENSP00000420705.2:p.Trp711Ter | |
| ENST00000493795.5:c.5304G>A | ENSP00000418775.1:p.Trp1768Ter | |
| ENST00000586385.5:c.375G>A | ENSP00000465818.1:p.Trp125Ter | |
| ENST00000591534.5:c.918G>A | ENSP00000467329.1:p.Trp306Ter | |
| ENST00000591849.5:c.144G>A | ENSP00000465347.1:p.Trp48Ter | |
| NM_007294.3:c.5445G>A , LRG_292t1:c.5445G>A | NP_009225.1:p.Trp1815Ter | |
| NM_007297.3:c.5304G>A | NP_009228.2:p.Trp1768Ter | |
| NM_007298.3:c.2133G>A | NP_009229.2:p.Trp711Ter | |
| NM_007299.3:c.2059G>A | NP_009230.2:p.Asp687Asn | |
| NM_007300.3:c.5508G>A | NP_009231.2:p.Trp1836Ter | |
| NR_027676.1:n.5581G>A | ||
| NM_007294.4:c.5445G>A MANE Select | NP_009225.1:p.Trp1815Ter | |
| NM_007297.4:c.5304G>A | NP_009228.2:p.Trp1768Ter | |
| NM_007299.4:c.2059G>A | NP_009230.2:p.Asp687Asn | |
| NM_007300.4:c.5508G>A | NP_009231.2:p.Trp1836Ter | |
| NR_027676.2:n.5622G>A |