Linked Data
ClinVar Variation Id:
142395
dbSNP Id:
rs587782432
ExAC:
17:41197806 C / T
gnomAD v2:
17-41197806-C-T
gnomAD v3:
17-43045789-C-T
gnomAD v4:
17-43045789-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045789C>T , CM000679.2:g.43045789C>T | GRCh38 |
| NC_000017.10:g.41197806C>T , CM000679.1:g.41197806C>T | GRCh37 |
| NC_000017.9:g.38451332C>T | NCBI36 |
| NG_005905.2:g.172195G>A , LRG_292:g.172195G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5478G>A | ENSP00000417241.2:p.Met1826Ile | |
| ENST00000470026.6:c.5481G>A | ENSP00000419274.2:p.Met1827Ile | |
| ENST00000473961.6:c.5355G>A | ENSP00000420201.2:p.Met1785Ile | |
| ENST00000476777.6:c.5475G>A | ENSP00000417554.2:p.Met1825Ile | |
| ENST00000477152.6:c.5403G>A | ENSP00000419988.2:p.Met1801Ile | |
| ENST00000478531.6:c.2169G>A | ENSP00000420412.2:p.Met723Ile | |
| ENST00000489037.2:c.5403G>A | ENSP00000420781.2:p.Met1801Ile | |
| ENST00000493919.6:c.2031G>A | ENSP00000418819.2:p.Met677Ile | |
| ENST00000494123.6:c.5481G>A | ENSP00000419103.2:p.Met1827Ile | |
| ENST00000497488.2:c.4593G>A | ENSP00000418986.2:p.Met1531Ile | |
| ENST00000618469.2:c.5481G>A | ENSP00000478114.2:p.Met1827Ile | |
| ENST00000634433.2:c.5358G>A | ENSP00000489431.2:p.Met1786Ile | |
| ENST00000644379.2:c.5547G>A | ENSP00000496570.2:p.Met1849Ile | |
| ENST00000644555.2:c.2031G>A | ENSP00000494614.2:p.Met677Ile | |
| ENST00000652672.2:c.5340G>A | ENSP00000498906.2:p.Met1780Ile | |
| ENST00000484087.6:c.2043G>A | ENSP00000419481.2:p.Met681Ile | |
| ENST00000700081.1:n.1364G>A | ||
| ENST00000700082.1:n.845G>A | ||
| ENST00000357654.9:c.5481G>A MANE Select | ENSP00000350283.3:p.Met1827Ile | |
| ENST00000471181.7:c.5544G>A | ENSP00000418960.2:p.Met1848Ile | |
| ENST00000644379.1:c.1868G>A | ||
| ENST00000352993.7:c.2055G>A | ENSP00000312236.5:p.Met685Ile | |
| ENST00000357654.7:c.5481G>A | ENSP00000350283.3:p.Met1827Ile | |
| ENST00000461221.5:c.*5264G>A | ENSP00000418548.1:n.*5264G>A | |
| ENST00000468300.5:c.2095G>A | ENSP00000417148.1:p.Val699Met | |
| ENST00000471181.6:c.5544G>A | ENSP00000418960.2:p.Met1848Ile | |
| ENST00000491747.6:c.2169G>A | ENSP00000420705.2:p.Met723Ile | |
| ENST00000493795.5:c.5340G>A | ENSP00000418775.1:p.Met1780Ile | |
| ENST00000586385.5:c.411G>A | ENSP00000465818.1:p.Met137Ile | |
| ENST00000591534.5:c.954G>A | ENSP00000467329.1:p.Met318Ile | |
| ENST00000591849.5:c.180G>A | ENSP00000465347.1:p.Met60Ile | |
| NM_007294.3:c.5481G>A , LRG_292t1:c.5481G>A | NP_009225.1:p.Met1827Ile | |
| NM_007297.3:c.5340G>A | NP_009228.2:p.Met1780Ile | |
| NM_007298.3:c.2169G>A | NP_009229.2:p.Met723Ile | |
| NM_007299.3:c.2095G>A | NP_009230.2:p.Val699Met | |
| NM_007300.3:c.5544G>A | NP_009231.2:p.Met1848Ile | |
| NR_027676.1:n.5617G>A | ||
| NM_007294.4:c.5481G>A MANE Select | NP_009225.1:p.Met1827Ile | |
| NM_007297.4:c.5340G>A | NP_009228.2:p.Met1780Ile | |
| NM_007299.4:c.2095G>A | NP_009230.2:p.Val699Met | |
| NM_007300.4:c.5544G>A | NP_009231.2:p.Met1848Ile | |
| NR_027676.2:n.5658G>A |