Linked Data
ClinVar Variation Id:
366790
dbSNP Id:
rs115369552
ExAC:
9:35806195 T / C
gnomAD v2:
9-35806195-T-C
gnomAD v3:
9-35806198-T-C
gnomAD v4:
9-35806198-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35806198T>C , CM000671.2:g.35806198T>C | GRCh38 |
| NC_000009.11:g.35806195T>C , CM000671.1:g.35806195T>C | GRCh37 |
| NC_000009.10:g.35796195T>C | NCBI36 |
| NG_009249.1:g.18790T>C | |
| NG_047141.1:g.11075A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421267.6:c.377T>C | ||
| ENST00000448821.6:c.2337T>C | ENSP00000402902.2:p.Phe779= | |
| ENST00000685871.1:c.2265T>C | ENSP00000509964.1:p.Phe755= | |
| ENST00000686159.1:n.2376T>C | ||
| ENST00000686486.1:n.1507T>C | ||
| ENST00000687302.1:n.2451T>C | ||
| ENST00000687357.1:c.2190T>C | ENSP00000509549.1:p.Phe730= | |
| ENST00000687625.1:n.1492T>C | ||
| ENST00000687787.1:c.2496T>C | ENSP00000509440.1:p.Phe832= | |
| ENST00000688201.1:n.2294T>C | ||
| ENST00000688226.1:n.2269T>C | ||
| ENST00000688869.1:n.2643T>C | ||
| ENST00000689788.1:c.2131T>C | ENSP00000508973.1:n.2131T>C | |
| ENST00000689898.1:c.2194T>C | ENSP00000509651.1:n.2194T>C | |
| ENST00000690070.1:c.2421T>C | ENSP00000509654.1:p.Phe807= | |
| ENST00000690267.1:c.2126T>C | ENSP00000510432.1:n.2126T>C | |
| ENST00000690552.1:n.2198T>C | ||
| ENST00000691138.1:n.2126T>C | ||
| ENST00000691969.1:c.1837T>C | ENSP00000510244.1:n.1837T>C | |
| ENST00000692232.1:n.3652T>C | ||
| ENST00000692233.1:c.2201T>C | ENSP00000509698.1:n.2201T>C | |
| ENST00000692380.1:n.1492T>C | ||
| ENST00000692447.1:n.3453T>C | ||
| ENST00000693094.1:c.2337T>C | ENSP00000510161.1:p.Phe779= | |
| ENST00000342694.7:c.2337T>C MANE Select | ENSP00000341083.2:p.Phe779= | |
| ENST00000342694.6:c.2337T>C | ENSP00000341083.2:p.Phe779= | |
| ENST00000421267.5:c.377T>C | ||
| ENST00000447210.5:c.114T>C | ENSP00000393029.1:p.Phe38= | |
| ENST00000464810.5:n.2337T>C | ||
| NM_003995.3:c.2337T>C | NP_003986.2:p.Phe779= | |
| XM_005251478.3:c.2346T>C | XP_005251535.1:p.Phe782= | |
| XM_005251479.3:c.1359T>C | XP_005251536.1:p.Phe453= | |
| XM_006716778.2:c.2274T>C | XP_006716841.1:p.Phe758= | |
| XM_011517889.1:c.1359T>C | XP_011516191.1:p.Phe453= | |
| XM_011517890.1:c.1359T>C | XP_011516192.1:p.Phe453= | |
| XM_011517891.1:c.1359T>C | XP_011516193.1:p.Phe453= | |
| XM_011517892.1:c.1359T>C | XP_011516194.1:p.Phe453= | |
| XM_011517893.1:c.1359T>C | XP_011516195.1:p.Phe453= | |
| XM_011517894.1:c.1359T>C | XP_011516196.1:p.Phe453= | |
| XM_011517895.1:c.942T>C | XP_011516197.1:p.Phe314= | |
| XM_024447556.1:c.2505T>C | XP_024303324.1:p.Phe835= | |
| XM_024447557.1:c.2496T>C | XP_024303325.1:p.Phe832= | |
| XM_024447558.1:c.1518T>C | XP_024303326.1:p.Phe506= | |
| XM_024447559.1:c.1101T>C | XP_024303327.1:p.Phe367= | |
| XM_024447560.1:c.1092T>C | XP_024303328.1:p.Phe364= | |
| XM_024447561.1:c.933T>C | XP_024303329.1:p.Phe311= | |
| NM_003995.4:c.2337T>C MANE Select | NP_003986.2:p.Phe779= | |
| NM_001378923.1:c.2346T>C | NP_001365852.1:p.Phe782= |