Linked Data
ClinVar Variation Id:
55580
ClinVar RCV Id:
RCV000048996
RCV000112656
RCV000162887
RCV000167788
RCV000414344
RCV000785212
RCV001554250
RCV000735516
RCV000763398
RCV001353974
dbSNP Id:
rs80356962
gnomAD v3:
17-43047666-C-T
gnomAD v4:
17-43047666-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43047666C>T , CM000679.2:g.43047666C>T | GRCh38 |
| NC_000017.10:g.41199683C>T , CM000679.1:g.41199683C>T | GRCh37 |
| NC_000017.9:g.38453209C>T | NCBI36 |
| NG_005905.2:g.170318G>A , LRG_292:g.170318G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5441G>A | ENSP00000417241.2:p.Trp1814Ter | |
| ENST00000470026.6:c.5444G>A | ENSP00000419274.2:p.Trp1815Ter | |
| ENST00000473961.6:c.5318G>A | ENSP00000420201.2:p.Trp1773Ter | |
| ENST00000476777.6:c.5438G>A | ENSP00000417554.2:p.Trp1813Ter | |
| ENST00000477152.6:c.5366G>A | ENSP00000419988.2:p.Trp1789Ter | |
| ENST00000478531.6:c.2132G>A | ENSP00000420412.2:p.Trp711Ter | |
| ENST00000489037.2:c.5366G>A | ENSP00000420781.2:p.Trp1789Ter | |
| ENST00000493919.6:c.1994G>A | ENSP00000418819.2:p.Trp665Ter | |
| ENST00000494123.6:c.5444G>A | ENSP00000419103.2:p.Trp1815Ter | |
| ENST00000497488.2:c.4556G>A | ENSP00000418986.2:p.Trp1519Ter | |
| ENST00000618469.2:c.5444G>A | ENSP00000478114.2:p.Trp1815Ter | |
| ENST00000634433.2:c.5321G>A | ENSP00000489431.2:p.Trp1774Ter | |
| ENST00000644379.2:c.5510G>A | ENSP00000496570.2:p.Trp1837Ter | |
| ENST00000644555.2:c.1994G>A | ENSP00000494614.2:p.Trp665Ter | |
| ENST00000652672.2:c.5303G>A | ENSP00000498906.2:p.Trp1768Ter | |
| ENST00000484087.6:c.2006G>A | ENSP00000419481.2:p.Trp669Ter | |
| ENST00000700081.1:n.1327G>A | ||
| ENST00000700082.1:n.808G>A | ||
| ENST00000357654.9:c.5444G>A MANE Select | ENSP00000350283.3:p.Trp1815Ter | |
| ENST00000471181.7:c.5507G>A | ENSP00000418960.2:p.Trp1836Ter | |
| ENST00000644379.1:c.1831G>A | ||
| ENST00000352993.7:c.2018G>A | ENSP00000312236.5:p.Trp673Ter | |
| ENST00000357654.7:c.5444G>A | ENSP00000350283.3:p.Trp1815Ter | |
| ENST00000461221.5:c.*5227G>A | ENSP00000418548.1:n.*5227G>A | |
| ENST00000468300.5:c.2058G>A | ENSP00000417148.1:p.Leu686= | |
| ENST00000471181.6:c.5507G>A | ENSP00000418960.2:p.Trp1836Ter | |
| ENST00000491747.6:c.2132G>A | ENSP00000420705.2:p.Trp711Ter | |
| ENST00000493795.5:c.5303G>A | ENSP00000418775.1:p.Trp1768Ter | |
| ENST00000586385.5:c.374G>A | ENSP00000465818.1:p.Trp125Ter | |
| ENST00000591534.5:c.917G>A | ENSP00000467329.1:p.Trp306Ter | |
| ENST00000591849.5:c.143G>A | ENSP00000465347.1:p.Trp48Ter | |
| NM_007294.3:c.5444G>A , LRG_292t1:c.5444G>A | NP_009225.1:p.Trp1815Ter | |
| NM_007297.3:c.5303G>A | NP_009228.2:p.Trp1768Ter | |
| NM_007298.3:c.2132G>A | NP_009229.2:p.Trp711Ter | |
| NM_007299.3:c.2058G>A | NP_009230.2:p.Leu686= | |
| NM_007300.3:c.5507G>A | NP_009231.2:p.Trp1836Ter | |
| NR_027676.1:n.5580G>A | ||
| NM_007294.4:c.5444G>A MANE Select | NP_009225.1:p.Trp1815Ter | |
| NM_007297.4:c.5303G>A | NP_009228.2:p.Trp1768Ter | |
| NM_007299.4:c.2058G>A | NP_009230.2:p.Leu686= | |
| NM_007300.4:c.5507G>A | NP_009231.2:p.Trp1836Ter | |
| NR_027676.2:n.5621G>A |