Linked Data
ClinVar Variation Id:
423845
ClinVar RCV Id:
RCV000487025
dbSNP Id:
rs769386938
ExAC:
9:35807042 C / T
gnomAD v2:
9-35807042-C-T
gnomAD v3:
9-35807045-C-T
gnomAD v4:
9-35807045-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35807045C>T , CM000671.2:g.35807045C>T | GRCh38 |
| NC_000009.11:g.35807042C>T , CM000671.1:g.35807042C>T | GRCh37 |
| NC_000009.10:g.35797042C>T | NCBI36 |
| NG_009249.1:g.19637C>T | |
| NG_047141.1:g.10228G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421267.6:c.582C>T | ||
| ENST00000448821.6:c.2542C>T | ENSP00000402902.2:p.Arg848Trp | |
| ENST00000685871.1:c.2470C>T | ENSP00000509964.1:p.Arg824Trp | |
| ENST00000686159.1:n.2581C>T | ||
| ENST00000686486.1:n.1712C>T | ||
| ENST00000687302.1:n.2656C>T | ||
| ENST00000687357.1:c.2395C>T | ENSP00000509549.1:p.Arg799Trp | |
| ENST00000687625.1:n.1697C>T | ||
| ENST00000687787.1:c.2701C>T | ENSP00000509440.1:p.Arg901Trp | |
| ENST00000688201.1:n.2499C>T | ||
| ENST00000688226.1:n.2474C>T | ||
| ENST00000688869.1:n.2848C>T | ||
| ENST00000689788.1:c.2336C>T | ENSP00000508973.1:n.2336C>T | |
| ENST00000689898.1:c.2399C>T | ENSP00000509651.1:n.2399C>T | |
| ENST00000690070.1:c.2626C>T | ENSP00000509654.1:p.Arg876Trp | |
| ENST00000690267.1:c.2331C>T | ENSP00000510432.1:n.2331C>T | |
| ENST00000690552.1:n.2887C>T | ||
| ENST00000691138.1:n.2815C>T | ||
| ENST00000691969.1:c.2042C>T | ENSP00000510244.1:n.2042C>T | |
| ENST00000692232.1:n.3857C>T | ||
| ENST00000692233.1:c.2406C>T | ENSP00000509698.1:n.2406C>T | |
| ENST00000692380.1:n.1697C>T | ||
| ENST00000692447.1:n.3658C>T | ||
| ENST00000693094.1:c.2632C>T | ENSP00000510161.1:p.Arg878Trp | |
| ENST00000342694.7:c.2542C>T MANE Select | ENSP00000341083.2:p.Arg848Trp | |
| ENST00000342694.6:c.2542C>T | ENSP00000341083.2:p.Arg848Trp | |
| ENST00000421267.5:c.582C>T | ||
| ENST00000447210.5:c.319C>T | ENSP00000393029.1:p.Arg107Trp | |
| ENST00000448821.5:c.29C>T | ||
| ENST00000464810.5:n.2542C>T | ||
| NM_003995.3:c.2542C>T | NP_003986.2:p.Arg848Trp | |
| XM_005251478.3:c.2551C>T | XP_005251535.1:p.Arg851Trp | |
| XM_005251479.3:c.1564C>T | XP_005251536.1:p.Arg522Trp | |
| XM_006716778.2:c.2479C>T | XP_006716841.1:p.Arg827Trp | |
| XM_011517889.1:c.1564C>T | XP_011516191.1:p.Arg522Trp | |
| XM_011517890.1:c.1564C>T | XP_011516192.1:p.Arg522Trp | |
| XM_011517891.1:c.1564C>T | XP_011516193.1:p.Arg522Trp | |
| XM_011517892.1:c.1564C>T | XP_011516194.1:p.Arg522Trp | |
| XM_011517893.1:c.1564C>T | XP_011516195.1:p.Arg522Trp | |
| XM_011517894.1:c.1564C>T | XP_011516196.1:p.Arg522Trp | |
| XM_011517895.1:c.1147C>T | XP_011516197.1:p.Arg383Trp | |
| XM_024447556.1:c.2710C>T | XP_024303324.1:p.Arg904Trp | |
| XM_024447557.1:c.2701C>T | XP_024303325.1:p.Arg901Trp | |
| XM_024447558.1:c.1723C>T | XP_024303326.1:p.Arg575Trp | |
| XM_024447559.1:c.1306C>T | XP_024303327.1:p.Arg436Trp | |
| XM_024447560.1:c.1297C>T | XP_024303328.1:p.Arg433Trp | |
| XM_024447561.1:c.1138C>T | XP_024303329.1:p.Arg380Trp | |
| NM_003995.4:c.2542C>T MANE Select | NP_003986.2:p.Arg848Trp | |
| NM_001378923.1:c.2551C>T | NP_001365852.1:p.Arg851Trp |