Revel Score:
ENST00000342694 (MANE Select)
0.824
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35805586C>T , CM000671.2:g.35805586C>T | GRCh38 |
| NC_000009.11:g.35805583C>T , CM000671.1:g.35805583C>T | GRCh37 |
| NC_000009.10:g.35795583C>T | NCBI36 |
| NG_009249.1:g.18178C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421267.6:c.57C>T | ||
| ENST00000448821.6:c.1963C>T | ENSP00000402902.2:p.Arg655Cys | |
| ENST00000685871.1:c.1891C>T | ENSP00000509964.1:p.Arg631Cys | |
| ENST00000686159.1:n.2002C>T | ||
| ENST00000686486.1:n.1133C>T | ||
| ENST00000687302.1:n.2077C>T | ||
| ENST00000687357.1:c.1816C>T | ENSP00000509549.1:p.Arg606Cys | |
| ENST00000687625.1:n.1118C>T | ||
| ENST00000687787.1:c.1963C>T | ENSP00000509440.1:p.Arg655Cys | |
| ENST00000688201.1:n.1920C>T | ||
| ENST00000688226.1:n.1895C>T | ||
| ENST00000688869.1:n.2269C>T | ||
| ENST00000689788.1:c.1757C>T | ENSP00000508973.1:n.1757C>T | |
| ENST00000689898.1:c.1820C>T | ENSP00000509651.1:n.1820C>T | |
| ENST00000690070.1:c.1888C>T | ENSP00000509654.1:p.Arg630Cys | |
| ENST00000690267.1:c.1752C>T | ENSP00000510432.1:n.1752C>T | |
| ENST00000690552.1:n.1824C>T | ||
| ENST00000691138.1:n.1752C>T | ||
| ENST00000691969.1:c.1463C>T | ENSP00000510244.1:n.1463C>T | |
| ENST00000692232.1:n.3119C>T | ||
| ENST00000692233.1:c.1827C>T | ENSP00000509698.1:n.1827C>T | |
| ENST00000692380.1:n.1118C>T | ||
| ENST00000692447.1:n.3079C>T | ||
| ENST00000693094.1:c.1963C>T | ENSP00000510161.1:p.Arg655Cys | |
| ENST00000342694.7:c.1963C>T MANE Select | ENSP00000341083.2:p.Arg655Cys | |
| ENST00000342694.6:c.1963C>T | ENSP00000341083.2:p.Arg655Cys | |
| ENST00000421267.5:c.57C>T | ||
| ENST00000464810.5:n.1963C>T | ||
| NM_003995.3:c.1963C>T | NP_003986.2:p.Arg655Cys | |
| XM_005251478.3:c.1972C>T | XP_005251535.1:p.Arg658Cys | |
| XM_005251479.3:c.985C>T | XP_005251536.1:p.Arg329Cys | |
| XM_006716778.2:c.1900C>T | XP_006716841.1:p.Arg634Cys | |
| XM_011517889.1:c.985C>T | XP_011516191.1:p.Arg329Cys | |
| XM_011517890.1:c.985C>T | XP_011516192.1:p.Arg329Cys | |
| XM_011517891.1:c.985C>T | XP_011516193.1:p.Arg329Cys | |
| XM_011517892.1:c.985C>T | XP_011516194.1:p.Arg329Cys | |
| XM_011517893.1:c.985C>T | XP_011516195.1:p.Arg329Cys | |
| XM_011517894.1:c.985C>T | XP_011516196.1:p.Arg329Cys | |
| XM_011517895.1:c.568C>T | XP_011516197.1:p.Arg190Cys | |
| XM_024447556.1:c.1972C>T | XP_024303324.1:p.Arg658Cys | |
| XM_024447557.1:c.1963C>T | XP_024303325.1:p.Arg655Cys | |
| XM_024447558.1:c.985C>T | XP_024303326.1:p.Arg329Cys | |
| XM_024447559.1:c.568C>T | XP_024303327.1:p.Arg190Cys | |
| XM_024447560.1:c.559C>T | XP_024303328.1:p.Arg187Cys | |
| XM_024447561.1:c.559C>T | XP_024303329.1:p.Arg187Cys | |
| NM_003995.4:c.1963C>T MANE Select | NP_003986.2:p.Arg655Cys | |
| NM_001378923.1:c.1972C>T | NP_001365852.1:p.Arg658Cys |