Linked Data
ClinVar Variation Id:
2102689
ClinVar RCV Id:
RCV003019640
dbSNP Id:
rs544587520
ExAC:
9:35806202 A / G
gnomAD v2:
9-35806202-A-G
gnomAD v3:
9-35806205-A-G
gnomAD v4:
9-35806205-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35806205A>G , CM000671.2:g.35806205A>G | GRCh38 |
| NC_000009.11:g.35806202A>G , CM000671.1:g.35806202A>G | GRCh37 |
| NC_000009.10:g.35796202A>G | NCBI36 |
| NG_009249.1:g.18797A>G | |
| NG_047141.1:g.11068T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421267.6:c.384A>G | ||
| ENST00000448821.6:c.2344A>G | ENSP00000402902.2:p.Ile782Val | |
| ENST00000685871.1:c.2272A>G | ENSP00000509964.1:p.Ile758Val | |
| ENST00000686159.1:n.2383A>G | ||
| ENST00000686486.1:n.1514A>G | ||
| ENST00000687302.1:n.2458A>G | ||
| ENST00000687357.1:c.2197A>G | ENSP00000509549.1:p.Ile733Val | |
| ENST00000687625.1:n.1499A>G | ||
| ENST00000687787.1:c.2503A>G | ENSP00000509440.1:p.Ile835Val | |
| ENST00000688201.1:n.2301A>G | ||
| ENST00000688226.1:n.2276A>G | ||
| ENST00000688869.1:n.2650A>G | ||
| ENST00000689788.1:c.2138A>G | ENSP00000508973.1:n.2138A>G | |
| ENST00000689898.1:c.2201A>G | ENSP00000509651.1:n.2201A>G | |
| ENST00000690070.1:c.2428A>G | ENSP00000509654.1:p.Ile810Val | |
| ENST00000690267.1:c.2133A>G | ENSP00000510432.1:n.2133A>G | |
| ENST00000690552.1:n.2205A>G | ||
| ENST00000691138.1:n.2133A>G | ||
| ENST00000691969.1:c.1844A>G | ENSP00000510244.1:n.1844A>G | |
| ENST00000692232.1:n.3659A>G | ||
| ENST00000692233.1:c.2208A>G | ENSP00000509698.1:n.2208A>G | |
| ENST00000692380.1:n.1499A>G | ||
| ENST00000692447.1:n.3460A>G | ||
| ENST00000693094.1:c.2344A>G | ENSP00000510161.1:p.Ile782Val | |
| ENST00000342694.7:c.2344A>G MANE Select | ENSP00000341083.2:p.Ile782Val | |
| ENST00000342694.6:c.2344A>G | ENSP00000341083.2:p.Ile782Val | |
| ENST00000421267.5:c.384A>G | ||
| ENST00000447210.5:c.121A>G | ENSP00000393029.1:p.Ile41Val | |
| ENST00000464810.5:n.2344A>G | ||
| NM_003995.3:c.2344A>G | NP_003986.2:p.Ile782Val | |
| XM_005251478.3:c.2353A>G | XP_005251535.1:p.Ile785Val | |
| XM_005251479.3:c.1366A>G | XP_005251536.1:p.Ile456Val | |
| XM_006716778.2:c.2281A>G | XP_006716841.1:p.Ile761Val | |
| XM_011517889.1:c.1366A>G | XP_011516191.1:p.Ile456Val | |
| XM_011517890.1:c.1366A>G | XP_011516192.1:p.Ile456Val | |
| XM_011517891.1:c.1366A>G | XP_011516193.1:p.Ile456Val | |
| XM_011517892.1:c.1366A>G | XP_011516194.1:p.Ile456Val | |
| XM_011517893.1:c.1366A>G | XP_011516195.1:p.Ile456Val | |
| XM_011517894.1:c.1366A>G | XP_011516196.1:p.Ile456Val | |
| XM_011517895.1:c.949A>G | XP_011516197.1:p.Ile317Val | |
| XM_024447556.1:c.2512A>G | XP_024303324.1:p.Ile838Val | |
| XM_024447557.1:c.2503A>G | XP_024303325.1:p.Ile835Val | |
| XM_024447558.1:c.1525A>G | XP_024303326.1:p.Ile509Val | |
| XM_024447559.1:c.1108A>G | XP_024303327.1:p.Ile370Val | |
| XM_024447560.1:c.1099A>G | XP_024303328.1:p.Ile367Val | |
| XM_024447561.1:c.940A>G | XP_024303329.1:p.Ile314Val | |
| NM_003995.4:c.2344A>G MANE Select | NP_003986.2:p.Ile782Val | |
| NM_001378923.1:c.2353A>G | NP_001365852.1:p.Ile785Val |