Linked Data
ClinVar Variation Id:
55221
ClinVar RCV Id:
RCV000048586
RCV000077575
RCV000129129
RCV000236102
RCV001001033
RCV000762998
RCV003492388
dbSNP Id:
rs80356885
gnomAD v4:
17-43074482-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43074482C>T , CM000679.2:g.43074482C>T | GRCh38 |
| NC_000017.10:g.41226499C>T , CM000679.1:g.41226499C>T | GRCh37 |
| NC_000017.9:g.38480025C>T | NCBI36 |
| NG_005905.2:g.143502G>A , LRG_292:g.143502G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4521G>A | ENSP00000417241.2:p.Trp1507Ter | |
| ENST00000470026.6:c.4524G>A | ENSP00000419274.2:p.Trp1508Ter | |
| ENST00000473961.6:c.4398G>A | ENSP00000420201.2:p.Trp1466Ter | |
| ENST00000476777.6:c.4518G>A | ENSP00000417554.2:p.Trp1506Ter | |
| ENST00000477152.6:c.4446G>A | ENSP00000419988.2:p.Trp1482Ter | |
| ENST00000478531.6:c.1212G>A | ENSP00000420412.2:p.Trp404Ter | |
| ENST00000489037.2:c.4446G>A | ENSP00000420781.2:p.Trp1482Ter | |
| ENST00000493919.6:c.1074G>A | ENSP00000418819.2:p.Trp358Ter | |
| ENST00000494123.6:c.4524G>A | ENSP00000419103.2:p.Trp1508Ter | |
| ENST00000497488.2:c.3636G>A | ENSP00000418986.2:p.Trp1212Ter | |
| ENST00000618469.2:c.4524G>A | ENSP00000478114.2:p.Trp1508Ter | |
| ENST00000634433.2:c.4401G>A | ENSP00000489431.2:p.Trp1467Ter | |
| ENST00000644379.2:c.4590G>A | ENSP00000496570.2:p.Trp1530Ter | |
| ENST00000644555.2:c.1074G>A | ENSP00000494614.2:p.Trp358Ter | |
| ENST00000652672.2:c.4383G>A | ENSP00000498906.2:p.Trp1461Ter | |
| ENST00000484087.6:c.1086G>A | ENSP00000419481.2:p.Trp362Ter | |
| ENST00000700182.1:c.1131G>A | ENSP00000514849.1:p.Trp377Ter | |
| ENST00000357654.9:c.4524G>A MANE Select | ENSP00000350283.3:p.Trp1508Ter | |
| ENST00000471181.7:c.4587G>A | ENSP00000418960.2:p.Trp1529Ter | |
| ENST00000644379.1:c.911G>A | ||
| ENST00000352993.7:c.1098G>A | ENSP00000312236.5:p.Trp366Ter | |
| ENST00000357654.7:c.4524G>A | ENSP00000350283.3:p.Trp1508Ter | |
| ENST00000461221.5:c.*4307G>A | ENSP00000418548.1:n.*4307G>A | |
| ENST00000468300.5:c.1212G>A | ENSP00000417148.1:p.Trp404Ter | |
| ENST00000471181.6:c.4587G>A | ENSP00000418960.2:p.Trp1529Ter | |
| ENST00000478531.5:c.1212G>A | ENSP00000420412.1:p.Trp404Ter | |
| ENST00000484087.5:c.837G>A | ENSP00000419481.1:p.Trp279Ter | |
| ENST00000491747.6:c.1212G>A | ENSP00000420705.2:p.Trp404Ter | |
| ENST00000493795.5:c.4383G>A | ENSP00000418775.1:p.Trp1461Ter | |
| ENST00000493919.5:c.1074G>A | ENSP00000418819.1:p.Trp358Ter | |
| ENST00000586385.5:c.5-10531G>A | ENSP00000465818.1:n.5-10531G>A | |
| ENST00000591534.5:c.-4G>A | ENSP00000467329.1:n.-4G>A | |
| ENST00000591849.5:c.-98-24292G>A | ENSP00000465347.1:n.-98-24292G>A | |
| NM_007294.3:c.4524G>A , LRG_292t1:c.4524G>A | NP_009225.1:p.Trp1508Ter | |
| NM_007297.3:c.4383G>A | NP_009228.2:p.Trp1461Ter | |
| NM_007298.3:c.1212G>A | NP_009229.2:p.Trp404Ter | |
| NM_007299.3:c.1212G>A | NP_009230.2:p.Trp404Ter | |
| NM_007300.3:c.4587G>A | NP_009231.2:p.Trp1529Ter | |
| NR_027676.1:n.4660G>A | ||
| NM_007294.4:c.4524G>A MANE Select | NP_009225.1:p.Trp1508Ter | |
| NM_007297.4:c.4383G>A | NP_009228.2:p.Trp1461Ter | |
| NM_007299.4:c.1212G>A | NP_009230.2:p.Trp404Ter | |
| NM_007300.4:c.4587G>A | NP_009231.2:p.Trp1529Ter | |
| NR_027676.2:n.4701G>A |