Linked Data
ClinVar Variation Id:
865409
ClinVar RCV Id:
RCV001072823
dbSNP Id:
rs373810778
MyVariant Identifiers:
chr17:g.41201156T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43049139T>A , CM000679.2:g.43049139T>A | GRCh38 |
| NC_000017.10:g.41201156T>A , CM000679.1:g.41201156T>A | GRCh37 |
| NC_000017.9:g.38454682T>A | NCBI36 |
| NG_005905.2:g.168845A>T , LRG_292:g.168845A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5385A>T | ENSP00000417241.2:p.Ser1795= | |
| ENST00000470026.6:c.5388A>T | ENSP00000419274.2:p.Ser1796= | |
| ENST00000473961.6:c.5262A>T | ENSP00000420201.2:p.Ser1754= | |
| ENST00000476777.6:c.5382A>T | ENSP00000417554.2:p.Ser1794= | |
| ENST00000477152.6:c.5310A>T | ENSP00000419988.2:p.Ser1770= | |
| ENST00000478531.6:c.2076A>T | ENSP00000420412.2:p.Ser692= | |
| ENST00000489037.2:c.5310A>T | ENSP00000420781.2:p.Ser1770= | |
| ENST00000493919.6:c.1938A>T | ENSP00000418819.2:p.Ser646= | |
| ENST00000494123.6:c.5388A>T | ENSP00000419103.2:p.Ser1796= | |
| ENST00000497488.2:c.4500A>T | ENSP00000418986.2:p.Ser1500= | |
| ENST00000618469.2:c.5388A>T | ENSP00000478114.2:p.Ser1796= | |
| ENST00000634433.2:c.5265A>T | ENSP00000489431.2:p.Ser1755= | |
| ENST00000644379.2:c.5454A>T | ENSP00000496570.2:p.Ser1818= | |
| ENST00000644555.2:c.1938A>T | ENSP00000494614.2:p.Ser646= | |
| ENST00000652672.2:c.5247A>T | ENSP00000498906.2:p.Ser1749= | |
| ENST00000484087.6:c.1950A>T | ENSP00000419481.2:p.Ser650= | |
| ENST00000700081.1:n.1271A>T | ||
| ENST00000357654.9:c.5388A>T MANE Select | ENSP00000350283.3:p.Ser1796= | |
| ENST00000471181.7:c.5451A>T | ENSP00000418960.2:p.Ser1817= | |
| ENST00000644379.1:c.1775A>T | ||
| ENST00000352993.7:c.1962A>T | ENSP00000312236.5:p.Ser654= | |
| ENST00000357654.7:c.5388A>T | ENSP00000350283.3:p.Ser1796= | |
| ENST00000461221.5:c.*5171A>T | ENSP00000418548.1:n.*5171A>T | |
| ENST00000468300.5:c.2021-1436A>T | ENSP00000417148.1:n.2021-1436A>T | |
| ENST00000471181.6:c.5451A>T | ENSP00000418960.2:p.Ser1817= | |
| ENST00000491747.6:c.2076A>T | ENSP00000420705.2:p.Ser692= | |
| ENST00000493795.5:c.5247A>T | ENSP00000418775.1:p.Ser1749= | |
| ENST00000586385.5:c.318A>T | ENSP00000465818.1:p.Ser106= | |
| ENST00000591534.5:c.861A>T | ENSP00000467329.1:p.Ser287= | |
| ENST00000591849.5:c.87A>T | ENSP00000465347.1:p.Ser29= | |
| NM_007294.3:c.5388A>T , LRG_292t1:c.5388A>T | NP_009225.1:p.Ser1796= | |
| NM_007297.3:c.5247A>T | NP_009228.2:p.Ser1749= | |
| NM_007298.3:c.2076A>T | NP_009229.2:p.Ser692= | |
| NM_007299.3:c.2021-1436A>T | NP_009230.2:n.2021-1436A>T | |
| NM_007300.3:c.5451A>T | NP_009231.2:p.Ser1817= | |
| NR_027676.1:n.5524A>T | ||
| NM_007294.4:c.5388A>T MANE Select | NP_009225.1:p.Ser1796= | |
| NM_007297.4:c.5247A>T | NP_009228.2:p.Ser1749= | |
| NM_007299.4:c.2021-1436A>T | NP_009230.2:n.2021-1436A>T | |
| NM_007300.4:c.5451A>T | NP_009231.2:p.Ser1817= | |
| NR_027676.2:n.5565A>T |