Linked Data
ClinVar Variation Id:
186137
dbSNP Id:
rs786202721
gnomAD v2:
17-41199708-T-C
gnomAD v4:
17-43047691-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43047691T>C , CM000679.2:g.43047691T>C | GRCh38 |
| NC_000017.10:g.41199708T>C , CM000679.1:g.41199708T>C | GRCh37 |
| NC_000017.9:g.38453234T>C | NCBI36 |
| NG_005905.2:g.170293A>G , LRG_292:g.170293A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5416A>G | ENSP00000417241.2:p.Ile1806Val | |
| ENST00000470026.6:c.5419A>G | ENSP00000419274.2:p.Ile1807Val | |
| ENST00000473961.6:c.5293A>G | ENSP00000420201.2:p.Ile1765Val | |
| ENST00000476777.6:c.5413A>G | ENSP00000417554.2:p.Ile1805Val | |
| ENST00000477152.6:c.5341A>G | ENSP00000419988.2:p.Ile1781Val | |
| ENST00000478531.6:c.2107A>G | ENSP00000420412.2:p.Ile703Val | |
| ENST00000489037.2:c.5341A>G | ENSP00000420781.2:p.Ile1781Val | |
| ENST00000493919.6:c.1969A>G | ENSP00000418819.2:p.Ile657Val | |
| ENST00000494123.6:c.5419A>G | ENSP00000419103.2:p.Ile1807Val | |
| ENST00000497488.2:c.4531A>G | ENSP00000418986.2:p.Ile1511Val | |
| ENST00000618469.2:c.5419A>G | ENSP00000478114.2:p.Ile1807Val | |
| ENST00000634433.2:c.5296A>G | ENSP00000489431.2:p.Ile1766Val | |
| ENST00000644379.2:c.5485A>G | ENSP00000496570.2:p.Ile1829Val | |
| ENST00000644555.2:c.1969A>G | ENSP00000494614.2:p.Ile657Val | |
| ENST00000652672.2:c.5278A>G | ENSP00000498906.2:p.Ile1760Val | |
| ENST00000484087.6:c.1981A>G | ENSP00000419481.2:p.Ile661Val | |
| ENST00000700081.1:n.1302A>G | ||
| ENST00000700082.1:n.783A>G | ||
| ENST00000357654.9:c.5419A>G MANE Select | ENSP00000350283.3:p.Ile1807Val | |
| ENST00000471181.7:c.5482A>G | ENSP00000418960.2:p.Ile1828Val | |
| ENST00000644379.1:c.1806A>G | ||
| ENST00000352993.7:c.1993A>G | ENSP00000312236.5:p.Ile665Val | |
| ENST00000357654.7:c.5419A>G | ENSP00000350283.3:p.Ile1807Val | |
| ENST00000461221.5:c.*5202A>G | ENSP00000418548.1:n.*5202A>G | |
| ENST00000468300.5:c.2033A>G | ENSP00000417148.1:p.Asn678Ser | |
| ENST00000471181.6:c.5482A>G | ENSP00000418960.2:p.Ile1828Val | |
| ENST00000491747.6:c.2107A>G | ENSP00000420705.2:p.Ile703Val | |
| ENST00000493795.5:c.5278A>G | ENSP00000418775.1:p.Ile1760Val | |
| ENST00000586385.5:c.349A>G | ENSP00000465818.1:p.Ile117Val | |
| ENST00000591534.5:c.892A>G | ENSP00000467329.1:p.Ile298Val | |
| ENST00000591849.5:c.118A>G | ENSP00000465347.1:p.Ile40Val | |
| NM_007294.3:c.5419A>G , LRG_292t1:c.5419A>G | NP_009225.1:p.Ile1807Val | |
| NM_007297.3:c.5278A>G | NP_009228.2:p.Ile1760Val | |
| NM_007298.3:c.2107A>G | NP_009229.2:p.Ile703Val | |
| NM_007299.3:c.2033A>G | NP_009230.2:p.Asn678Ser | |
| NM_007300.3:c.5482A>G | NP_009231.2:p.Ile1828Val | |
| NR_027676.1:n.5555A>G | ||
| NM_007294.4:c.5419A>G MANE Select | NP_009225.1:p.Ile1807Val | |
| NM_007297.4:c.5278A>G | NP_009228.2:p.Ile1760Val | |
| NM_007299.4:c.2033A>G | NP_009230.2:p.Asn678Ser | |
| NM_007300.4:c.5482A>G | NP_009231.2:p.Ile1828Val | |
| NR_027676.2:n.5596A>G |