Linked Data
ClinVar Variation Id:
55396
ClinVar RCV Id:
RCV000048789
RCV000077595
RCV000131821
RCV000159999
RCV000191041
RCV000239322
RCV000148390
RCV000457515
RCV001357133
RCV000585864
RCV003128133
dbSNP Id:
rs55770810
ExAC:
17:41215948 G / A
gnomAD v2:
17-41215948-G-A
gnomAD v3:
17-43063931-G-A
gnomAD v4:
17-43063931-G-A
PubMed:
PMID:2147358
PMID:11157798
PMID:12496476
PMID:15235020
PMID:17308087
PMID:17574969
PMID:17924331
PMID:19200354
PMID:20516115
PMID:21324516
PMID:21473589
PMID:21965345
PMID:21990134
PMID:22889855
PMID:23867111
PMID:24055113
PMID:24845084
PMID:25472942
PMID:26689913
PMID:26884819
PMID:27272900
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063931G>A , CM000679.2:g.43063931G>A | GRCh38 |
| NC_000017.10:g.41215948G>A , CM000679.1:g.41215948G>A | GRCh37 |
| NC_000017.9:g.38469474G>A | NCBI36 |
| NG_005905.2:g.154053C>T , LRG_292:g.154053C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5092C>T | ENSP00000417241.2:p.Arg1698Trp | |
| ENST00000470026.6:c.5095C>T | ENSP00000419274.2:p.Arg1699Trp | |
| ENST00000473961.6:c.4969C>T | ENSP00000420201.2:p.Arg1657Trp | |
| ENST00000476777.6:c.5089C>T | ENSP00000417554.2:p.Arg1697Trp | |
| ENST00000477152.6:c.5017C>T | ENSP00000419988.2:p.Arg1673Trp | |
| ENST00000478531.6:c.1783C>T | ENSP00000420412.2:p.Arg595Trp | |
| ENST00000489037.2:c.5017C>T | ENSP00000420781.2:p.Arg1673Trp | |
| ENST00000493919.6:c.1645C>T | ENSP00000418819.2:p.Arg549Trp | |
| ENST00000494123.6:c.5095C>T | ENSP00000419103.2:p.Arg1699Trp | |
| ENST00000497488.2:c.4207C>T | ENSP00000418986.2:p.Arg1403Trp | |
| ENST00000618469.2:c.5095C>T | ENSP00000478114.2:p.Arg1699Trp | |
| ENST00000634433.2:c.4972C>T | ENSP00000489431.2:p.Arg1658Trp | |
| ENST00000644379.2:c.5161C>T | ENSP00000496570.2:p.Arg1721Trp | |
| ENST00000644555.2:c.1645C>T | ENSP00000494614.2:p.Arg549Trp | |
| ENST00000652672.2:c.4954C>T | ENSP00000498906.2:p.Arg1652Trp | |
| ENST00000484087.6:c.1657C>T | ENSP00000419481.2:p.Arg553Trp | |
| ENST00000357654.9:c.5095C>T MANE Select | ENSP00000350283.3:p.Arg1699Trp | |
| ENST00000471181.7:c.5158C>T | ENSP00000418960.2:p.Arg1720Trp | |
| ENST00000644379.1:c.1482C>T | ||
| ENST00000352993.7:c.1669C>T | ENSP00000312236.5:p.Arg557Trp | |
| ENST00000357654.7:c.5095C>T | ENSP00000350283.3:p.Arg1699Trp | |
| ENST00000461221.5:c.*4878C>T | ENSP00000418548.1:n.*4878C>T | |
| ENST00000468300.5:c.1783C>T | ENSP00000417148.1:p.Arg595Trp | |
| ENST00000471181.6:c.5158C>T | ENSP00000418960.2:p.Arg1720Trp | |
| ENST00000478531.5:c.1783C>T | ENSP00000420412.1:p.Arg595Trp | |
| ENST00000484087.5:c.1408C>T | ENSP00000419481.1:p.Arg470Trp | |
| ENST00000491747.6:c.1783C>T | ENSP00000420705.2:p.Arg595Trp | |
| ENST00000493795.5:c.4954C>T | ENSP00000418775.1:p.Arg1652Trp | |
| ENST00000493919.5:c.1645C>T | ENSP00000418819.1:p.Arg549Trp | |
| ENST00000586385.5:c.25C>T | ENSP00000465818.1:p.Arg9Trp | |
| ENST00000591534.5:c.568C>T | ENSP00000467329.1:p.Arg190Trp | |
| ENST00000591849.5:c.-98-13741C>T | ENSP00000465347.1:n.-98-13741C>T | |
| NM_007294.3:c.5095C>T , LRG_292t1:c.5095C>T | NP_009225.1:p.Arg1699Trp | |
| NM_007297.3:c.4954C>T | NP_009228.2:p.Arg1652Trp | |
| NM_007298.3:c.1783C>T | NP_009229.2:p.Arg595Trp | |
| NM_007299.3:c.1783C>T | NP_009230.2:p.Arg595Trp | |
| NM_007300.3:c.5158C>T | NP_009231.2:p.Arg1720Trp | |
| NR_027676.1:n.5231C>T | ||
| NM_007294.4:c.5095C>T MANE Select | NP_009225.1:p.Arg1699Trp | |
| NM_007297.4:c.4954C>T | NP_009228.2:p.Arg1652Trp | |
| NM_007299.4:c.1783C>T | NP_009230.2:p.Arg595Trp | |
| NM_007300.4:c.5158C>T | NP_009231.2:p.Arg1720Trp | |
| NR_027676.2:n.5272C>T |