Linked Data
ClinVar Variation Id:
323423
dbSNP Id:
rs143160357
ExAC:
17:41277354 G / A
gnomAD v2:
17-41277354-G-A
gnomAD v3:
17-43125337-G-A
gnomAD v4:
17-43125337-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43125337G>A , CM000679.2:g.43125337G>A | GRCh38 |
| NC_000017.10:g.41277354G>A , CM000679.1:g.41277354G>A | GRCh37 |
| NC_000017.9:g.38530880G>A | NCBI36 |
| NG_005905.2:g.92647C>T , LRG_292:g.92647C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.-86C>T | ENSP00000417241.2:n.-86C>T | |
| ENST00000470026.6:c.-175C>T | ENSP00000419274.2:n.-175C>T | |
| ENST00000473961.6:c.-86C>T | ENSP00000420201.2:n.-86C>T | |
| ENST00000476777.6:c.-86C>T | ENSP00000417554.2:n.-86C>T | |
| ENST00000477152.6:c.-86C>T | ENSP00000419988.2:n.-86C>T | |
| ENST00000478531.6:c.-80C>T | ENSP00000420412.2:n.-80C>T | |
| ENST00000493919.6:c.-167C>T | ENSP00000418819.2:n.-167C>T | |
| ENST00000494123.6:c.-80C>T | ENSP00000419103.2:n.-80C>T | |
| ENST00000618469.2:c.-620C>T | ENSP00000478114.2:n.-620C>T | |
| ENST00000634433.2:c.-19-1222C>T | ENSP00000489431.2:n.-19-1222C>T | |
| ENST00000644379.2:c.-86C>T | ENSP00000496570.2:n.-86C>T | |
| ENST00000644555.2:c.-372C>T | ENSP00000494614.2:n.-372C>T | |
| ENST00000652672.2:c.-340C>T | ENSP00000498906.2:n.-340C>T | |
| ENST00000484087.6:c.-86C>T | ENSP00000419481.2:n.-86C>T | |
| ENST00000700182.1:c.-86C>T | ENSP00000514849.1:n.-86C>T | |
| ENST00000700183.1:c.-86C>T | ENSP00000514850.1:n.-86C>T | |
| ENST00000700185.1:n.34C>T | ||
| ENST00000700186.1:n.34C>T | ||
| ENST00000357654.9:c.-86C>T MANE Select | ENSP00000350283.3:n.-86C>T | |
| ENST00000471181.7:c.-86C>T | ENSP00000418960.2:n.-86C>T | |
| ENST00000642945.1:c.-80C>T | ENSP00000495897.1:n.-80C>T | |
| ENST00000652672.1:c.-340C>T | ENSP00000498906.1:n.-340C>T | |
| ENST00000352993.7:c.-86C>T | ENSP00000312236.5:n.-86C>T | |
| ENST00000357654.7:c.-86C>T | ENSP00000350283.3:n.-86C>T | |
| ENST00000461798.5:c.-80C>T | ENSP00000417988.1:n.-80C>T | |
| ENST00000468300.5:c.-80C>T | ENSP00000417148.1:n.-80C>T | |
| ENST00000471181.6:c.-86C>T | ENSP00000418960.2:n.-86C>T | |
| ENST00000476777.5:c.-86C>T | ENSP00000417554.1:n.-86C>T | |
| ENST00000477152.5:c.-86C>T | ENSP00000419988.1:n.-86C>T | |
| ENST00000478531.5:c.-80C>T | ENSP00000420412.1:n.-80C>T | |
| ENST00000491747.6:c.-80C>T | ENSP00000420705.2:n.-80C>T | |
| ENST00000493795.5:c.-167C>T | ENSP00000418775.1:n.-167C>T | |
| ENST00000493919.5:c.-167C>T | ENSP00000418819.1:n.-167C>T | |
| ENST00000494123.5:c.-80C>T | ENSP00000419103.1:n.-80C>T | |
| ENST00000618469.1:c.-620C>T | ENSP00000478114.1:n.-620C>T | |
| ENST00000634433.1:c.-19-1222C>T | ENSP00000489431.1:n.-19-1222C>T | |
| NM_007294.3:c.-86C>T , LRG_292t1:c.-86C>T | NP_009225.1:n.-86C>T | |
| NM_007297.3:c.-167C>T | NP_009228.2:n.-167C>T | |
| NM_007299.3:c.-80C>T | NP_009230.2:n.-80C>T | |
| NM_007300.3:c.-86C>T | NP_009231.2:n.-86C>T | |
| NM_007294.4:c.-86C>T MANE Select | NP_009225.1:n.-86C>T | |
| NM_007297.4:c.-167C>T | NP_009228.2:n.-167C>T | |
| NM_007299.4:c.-80C>T | NP_009230.2:n.-80C>T | |
| NM_007300.4:c.-86C>T | NP_009231.2:n.-86C>T | |
| NR_027676.2:n.28C>T |