Linked Data
ClinVar Variation Id:
194964
dbSNP Id:
rs368873021
ExAC:
7:128612584 T / C
gnomAD v2:
7-128612584-T-C
gnomAD v3:
7-128972530-T-C
gnomAD v4:
7-128972530-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128972530T>C , CM000669.2:g.128972530T>C | GRCh38 |
| NC_000007.13:g.128612584T>C , CM000669.1:g.128612584T>C | GRCh37 |
| NC_000007.12:g.128399820T>C | NCBI36 |
| NG_023428.1:g.87644A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265388.10:c.2326A>G MANE Select | ENSP00000265388.5:p.Ile776Val | |
| ENST00000265388.9:c.2326A>G | ENSP00000265388.5:p.Ile776Val | |
| ENST00000471166.1:c.2428A>G | ENSP00000418267.1:p.Ile810Val | |
| ENST00000471234.5:c.2134A>G | ENSP00000418646.1:p.Ile712Val | |
| ENST00000482320.5:c.2128A>G | ENSP00000420089.1:p.Ile710Val | |
| ENST00000627585.2:c.2428A>G | ENSP00000487231.1:p.Ile810Val | |
| NM_001191028.2:c.2134A>G | NP_001177957.2:p.Ile712Val | |
| NM_012470.3:c.2326A>G | NP_036602.1:p.Ile776Val | |
| NR_034053.2:n.2890A>G | ||
| XM_011515989.1:c.2128A>G | XP_011514291.1:p.Ile710Val | |
| NM_001191028.3:c.2134A>G | NP_001177957.2:p.Ile712Val | |
| NM_001382216.1:c.2428A>G | NP_001369145.1:p.Ile810Val | |
| NM_001382217.1:c.2407A>G | NP_001369146.1:p.Ile803Val | |
| NM_001382218.1:c.2326A>G | NP_001369147.1:p.Ile776Val | |
| NM_001382219.1:c.2218A>G | NP_001369148.1:p.Ile740Val | |
| NM_001382220.1:c.2185A>G | NP_001369149.1:p.Ile729Val | |
| NM_001382221.1:c.2182A>G | NP_001369150.1:p.Ile728Val | |
| NM_001382222.1:c.2179A>G | NP_001369151.1:p.Ile727Val | |
| NM_001382223.1:c.2134A>G | NP_001369152.1:p.Ile712Val | |
| NM_012470.4:c.2326A>G MANE Select | NP_036602.1:p.Ile776Val | |
| NR_034053.3:n.2828A>G | ||
| NR_167911.1:n.2915A>G | ||
| NR_167912.1:n.2773A>G | ||
| NR_167913.1:n.2575A>G | ||
| NR_167914.1:n.2735A>G | ||
| NR_167915.1:n.2991A>G | ||
| NR_167916.1:n.2465A>G | ||
| NR_167917.1:n.2498A>G | ||
| NR_167918.1:n.2953A>G | ||
| NR_167919.1:n.2792A>G | ||
| NR_167920.1:n.2751A>G | ||
| NR_167921.1:n.2953A>G | ||
| NR_167922.1:n.2789A>G | ||
| NR_167923.1:n.2590A>G | ||
| NR_167924.1:n.2667A>G | ||
| NR_167925.1:n.2590A>G | ||
| NR_167926.1:n.2601A>G | ||
| NR_167927.1:n.2894A>G |