Linked Data
ClinVar Variation Id:
2450660
ClinVar RCV Id:
RCV003177108
dbSNP Id:
rs1467083210
gnomAD v4:
17-43076610-T-A
MyVariant Identifiers:
chr17:g.41228627T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43076610T>A , CM000679.2:g.43076610T>A | GRCh38 |
| NC_000017.10:g.41228627T>A , CM000679.1:g.41228627T>A | GRCh37 |
| NC_000017.9:g.38482153T>A | NCBI36 |
| NG_005905.2:g.141374A>T , LRG_292:g.141374A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4359A>T | ENSP00000417241.2:p.Val1453= | |
| ENST00000470026.6:c.4362A>T | ENSP00000419274.2:p.Val1454= | |
| ENST00000473961.6:c.4236A>T | ENSP00000420201.2:p.Val1412= | |
| ENST00000476777.6:c.4356A>T | ENSP00000417554.2:p.Val1452= | |
| ENST00000477152.6:c.4284A>T | ENSP00000419988.2:p.Val1428= | |
| ENST00000478531.6:c.1050A>T | ENSP00000420412.2:p.Val350= | |
| ENST00000489037.2:c.4284A>T | ENSP00000420781.2:p.Val1428= | |
| ENST00000493919.6:c.912A>T | ENSP00000418819.2:p.Val304= | |
| ENST00000494123.6:c.4362A>T | ENSP00000419103.2:p.Val1454= | |
| ENST00000497488.2:c.3474A>T | ENSP00000418986.2:p.Val1158= | |
| ENST00000618469.2:c.4362A>T | ENSP00000478114.2:p.Val1454= | |
| ENST00000634433.2:c.4239A>T | ENSP00000489431.2:p.Val1413= | |
| ENST00000644379.2:c.4428A>T | ENSP00000496570.2:p.Val1476= | |
| ENST00000644555.2:c.912A>T | ENSP00000494614.2:p.Val304= | |
| ENST00000652672.2:c.4221A>T | ENSP00000498906.2:p.Val1407= | |
| ENST00000484087.6:c.924A>T | ENSP00000419481.2:p.Val308= | |
| ENST00000700182.1:c.969A>T | ENSP00000514849.1:p.Val323= | |
| ENST00000357654.9:c.4362A>T MANE Select | ENSP00000350283.3:p.Val1454= | |
| ENST00000471181.7:c.4425A>T | ENSP00000418960.2:p.Val1475= | |
| ENST00000644379.1:c.749A>T | ||
| ENST00000352993.7:c.936A>T | ENSP00000312236.5:p.Val312= | |
| ENST00000357654.7:c.4362A>T | ENSP00000350283.3:p.Val1454= | |
| ENST00000461221.5:c.*4145A>T | ENSP00000418548.1:n.*4145A>T | |
| ENST00000461574.1:c.653A>T | ||
| ENST00000468300.5:c.1050A>T | ENSP00000417148.1:p.Val350= | |
| ENST00000471181.6:c.4425A>T | ENSP00000418960.2:p.Val1475= | |
| ENST00000478531.5:c.1050A>T | ENSP00000420412.1:p.Val350= | |
| ENST00000484087.5:c.675A>T | ENSP00000419481.1:p.Val225= | |
| ENST00000487825.5:c.678A>T | ENSP00000418212.1:p.Val226= | |
| ENST00000491747.6:c.1050A>T | ENSP00000420705.2:p.Val350= | |
| ENST00000493795.5:c.4221A>T | ENSP00000418775.1:p.Val1407= | |
| ENST00000493919.5:c.912A>T | ENSP00000418819.1:p.Val304= | |
| ENST00000586385.5:c.5-12659A>T | ENSP00000465818.1:n.5-12659A>T | |
| ENST00000591534.5:c.-43-2089A>T | ENSP00000467329.1:n.-43-2089A>T | |
| ENST00000591849.5:c.-98-26420A>T | ENSP00000465347.1:n.-98-26420A>T | |
| ENST00000621897.1:n.253A>T | ||
| NM_007294.3:c.4362A>T , LRG_292t1:c.4362A>T | NP_009225.1:p.Val1454= | |
| NM_007297.3:c.4221A>T | NP_009228.2:p.Val1407= | |
| NM_007298.3:c.1050A>T | NP_009229.2:p.Val350= | |
| NM_007299.3:c.1050A>T | NP_009230.2:p.Val350= | |
| NM_007300.3:c.4425A>T | NP_009231.2:p.Val1475= | |
| NR_027676.1:n.4498A>T | ||
| NM_007294.4:c.4362A>T MANE Select | NP_009225.1:p.Val1454= | |
| NM_007297.4:c.4221A>T | NP_009228.2:p.Val1407= | |
| NM_007299.4:c.1050A>T | NP_009230.2:p.Val350= | |
| NM_007300.4:c.4425A>T | NP_009231.2:p.Val1475= | |
| NR_027676.2:n.4539A>T |