Linked Data
ClinVar Variation Id:
366780
dbSNP Id:
rs191155989
ExAC:
9:35793054 A / T
gnomAD v2:
9-35793054-A-T
gnomAD v3:
9-35793057-A-T
gnomAD v4:
9-35793057-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35793057A>T , CM000671.2:g.35793057A>T | GRCh38 |
| NC_000009.11:g.35793054A>T , CM000671.1:g.35793054A>T | GRCh37 |
| NC_000009.10:g.35783054A>T | NCBI36 |
| NG_009249.1:g.5649A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448821.6:c.649A>T | ENSP00000402902.2:p.Ile217Phe | |
| ENST00000685871.1:c.649A>T | ENSP00000509964.1:p.Ile217Phe | |
| ENST00000686159.1:n.688A>T | ||
| ENST00000687302.1:n.510A>T | ||
| ENST00000687357.1:c.649A>T | ENSP00000509549.1:p.Ile217Phe | |
| ENST00000687625.1:n.164+1891A>T | ||
| ENST00000687787.1:c.649A>T | ENSP00000509440.1:p.Ile217Phe | |
| ENST00000688201.1:n.681A>T | ||
| ENST00000688869.1:n.730A>T | ||
| ENST00000689788.1:c.649A>T | ENSP00000508973.1:p.Ile217Phe | |
| ENST00000689898.1:c.649A>T | ENSP00000509651.1:p.Ile217Phe | |
| ENST00000690070.1:c.649A>T | ENSP00000509654.1:p.Ile217Phe | |
| ENST00000690267.1:c.649A>T | ENSP00000510432.1:p.Ile217Phe | |
| ENST00000690552.1:n.510A>T | ||
| ENST00000691138.1:n.510A>T | ||
| ENST00000691969.1:c.448+201A>T | ENSP00000510244.1:n.448+201A>T | |
| ENST00000692233.1:c.649A>T | ENSP00000509698.1:p.Ile217Phe | |
| ENST00000692380.1:n.164+1891A>T | ||
| ENST00000692447.1:n.649A>T | ||
| ENST00000693094.1:c.649A>T | ENSP00000510161.1:p.Ile217Phe | |
| ENST00000342694.7:c.649A>T MANE Select | ENSP00000341083.2:p.Ile217Phe | |
| ENST00000342694.6:c.649A>T | ENSP00000341083.2:p.Ile217Phe | |
| ENST00000464810.5:n.649A>T | ||
| NM_003995.3:c.649A>T | NP_003986.2:p.Ile217Phe | |
| XM_005251478.3:c.649A>T | XP_005251535.1:p.Ile217Phe | |
| XM_005251479.3:c.-115+2717A>T | XP_005251536.1:n.-115+2717A>T | |
| XM_006716778.2:c.649A>T | XP_006716841.1:p.Ile217Phe | |
| XM_011517889.1:c.-115+2717A>T | XP_011516191.1:n.-115+2717A>T | |
| XM_011517890.1:c.-115+2717A>T | XP_011516192.1:n.-115+2717A>T | |
| XM_011517891.1:c.-115+2717A>T | XP_011516193.1:n.-115+2717A>T | |
| XM_011517892.1:c.-115+2717A>T | XP_011516194.1:n.-115+2717A>T | |
| XM_011517893.1:c.-115+2717A>T | XP_011516195.1:n.-115+2717A>T | |
| XM_011517894.1:c.-115+2717A>T | XP_011516196.1:n.-115+2717A>T | |
| XM_024447556.1:c.649A>T | XP_024303324.1:p.Ile217Phe | |
| XM_024447557.1:c.649A>T | XP_024303325.1:p.Ile217Phe | |
| XM_024447558.1:c.-115+2717A>T | XP_024303326.1:n.-115+2717A>T | |
| NM_003995.4:c.649A>T MANE Select | NP_003986.2:p.Ile217Phe | |
| NM_001378923.1:c.649A>T | NP_001365852.1:p.Ile217Phe |