Linked Data
ClinVar Variation Id:
286472
dbSNP Id:
rs886043402
gnomAD v2:
7-128622351-T-C
gnomAD v3:
7-128982297-T-C
gnomAD v4:
7-128982297-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128982297T>C , CM000669.2:g.128982297T>C | GRCh38 |
| NC_000007.13:g.128622351T>C , CM000669.1:g.128622351T>C | GRCh37 |
| NC_000007.12:g.128409587T>C | NCBI36 |
| NG_023428.1:g.77877A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265388.10:c.1810A>G MANE Select | ENSP00000265388.5:p.Ile604Val | |
| ENST00000265388.9:c.1810A>G | ENSP00000265388.5:p.Ile604Val | |
| ENST00000471166.1:c.1912A>G | ENSP00000418267.1:p.Ile638Val | |
| ENST00000471234.5:c.1618A>G | ENSP00000418646.1:p.Ile540Val | |
| ENST00000482320.5:c.1612A>G | ENSP00000420089.1:p.Ile538Val | |
| ENST00000627585.2:c.1912A>G | ENSP00000487231.1:p.Ile638Val | |
| NM_001191028.2:c.1618A>G | NP_001177957.2:p.Ile540Val | |
| NM_012470.3:c.1810A>G | NP_036602.1:p.Ile604Val | |
| NR_034053.2:n.2374A>G | ||
| XM_011515989.1:c.1612A>G | XP_011514291.1:p.Ile538Val | |
| NM_001191028.3:c.1618A>G | NP_001177957.2:p.Ile540Val | |
| NM_001382216.1:c.1912A>G | NP_001369145.1:p.Ile638Val | |
| NM_001382217.1:c.1891A>G | NP_001369146.1:p.Ile631Val | |
| NM_001382218.1:c.1810A>G | NP_001369147.1:p.Ile604Val | |
| NM_001382219.1:c.1702A>G | NP_001369148.1:p.Ile568Val | |
| NM_001382220.1:c.1810A>G | NP_001369149.1:p.Ile604Val | |
| NM_001382221.1:c.1666A>G | NP_001369150.1:p.Ile556Val | |
| NM_001382222.1:c.1663A>G | NP_001369151.1:p.Ile555Val | |
| NM_001382223.1:c.1618A>G | NP_001369152.1:p.Ile540Val | |
| NM_012470.4:c.1810A>G MANE Select | NP_036602.1:p.Ile604Val | |
| NR_034053.3:n.2312A>G | ||
| NR_167911.1:n.2399A>G | ||
| NR_167912.1:n.2151A>G | ||
| NR_167913.1:n.2059A>G | ||
| NR_167914.1:n.2219A>G | ||
| NR_167915.1:n.2312A>G | ||
| NR_167916.1:n.2151A>G | ||
| NR_167917.1:n.2031+1871A>G | ||
| NR_167918.1:n.2437A>G | ||
| NR_167919.1:n.2276A>G | ||
| NR_167920.1:n.2437A>G | ||
| NR_167921.1:n.2437A>G | ||
| NR_167922.1:n.2273A>G | ||
| NR_167923.1:n.2276A>G | ||
| NR_167924.1:n.2151A>G | ||
| NR_167925.1:n.2123+1871A>G | ||
| NR_167926.1:n.2287A>G | ||
| NR_167927.1:n.2378A>G |