Linked Data
dbSNP Id:
rs758471429
ExAC:
12:53823741 C / T
gnomAD v2:
12-53823741-C-T
gnomAD v3:
12-53429957-C-T
gnomAD v4:
12-53429957-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53429957C>T , CM000674.2:g.53429957C>T | GRCh38 |
| NC_000012.11:g.53823741C>T , CM000674.1:g.53823741C>T | GRCh37 |
| NC_000012.10:g.52110008C>T | NCBI36 |
| NG_015981.1:g.11103C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257863.9:c.1267C>T MANE Select | ENSP00000257863.3:p.Arg423Cys | |
| ENST00000257863.8:c.1267C>T | ENSP00000257863.3:p.Arg423Cys | |
| ENST00000379791.7:c.1140+332C>T | ENSP00000369117.3:n.1140+332C>T | |
| ENST00000550311.5:c.1267C>T | ENSP00000446661.1:p.Arg423Cys | |
| ENST00000550839.1:c.358C>T | ENSP00000455338.1:p.Arg120Cys | |
| ENST00000552233.5:n.855C>T | ||
| NM_001164690.1:c.1267C>T | NP_001158162.1:p.Arg423Cys | |
| NM_001164691.1:c.1140+332C>T | NP_001158163.1:n.1140+332C>T | |
| NM_020547.2:c.1267C>T | NP_065434.1:p.Arg423Cys | |
| XM_011538173.1:c.1327C>T | XP_011536475.1:p.Arg443Cys | |
| XM_011538174.1:c.1324C>T | XP_011536476.1:p.Arg442Cys | |
| XM_011538175.1:c.1309C>T | XP_011536477.1:p.Arg437Cys | |
| XM_011538176.1:c.1270C>T | XP_011536478.1:p.Arg424Cys | |
| XM_011538177.1:c.1249C>T | XP_011536479.1:p.Arg417Cys | |
| XM_011538178.1:c.1108C>T | XP_011536480.1:p.Arg370Cys | |
| XM_011538179.1:c.1200+332C>T | XP_011536481.1:n.1200+332C>T | |
| XM_011538180.1:c.994C>T | XP_011536482.1:p.Arg332Cys | |
| XM_011538181.1:c.991C>T | XP_011536483.1:p.Arg331Cys | |
| XM_011538182.1:c.916C>T | XP_011536484.1:p.Arg306Cys | |
| XM_011538183.1:c.1201-189C>T | XP_011536485.1:n.1201-189C>T | |
| XM_011538184.1:c.1220+312C>T | XP_011536486.1:n.1220+312C>T | |
| XM_011538185.1:c.856-1220C>T | XP_011536487.1:n.856-1220C>T | |
| XM_011538186.1:c.442C>T | XP_011536488.1:p.Arg148Cys | |
| NM_001164690.2:c.1267C>T | NP_001158162.1:p.Arg423Cys | |
| NM_001164691.2:c.1140+332C>T | NP_001158163.1:n.1140+332C>T | |
| NM_020547.3:c.1267C>T MANE Select | NP_065434.1:p.Arg423Cys | |
| XM_011538183.2:c.1201-189C>T | XP_011536485.1:n.1201-189C>T | |
| XM_011538184.2:c.1220+312C>T | XP_011536486.1:n.1220+312C>T | |
| XM_011538186.3:c.442C>T | XP_011536488.1:p.Arg148Cys | |
| XM_017019179.2:c.1327C>T | XP_016874668.1:p.Arg443Cys | |
| XM_024448938.1:c.1143+332C>T | XP_024304706.1:n.1143+332C>T | |
| XR_002957309.1:n.1235C>T | ||
| XR_002957310.1:n.1109-189C>T | ||
| XR_002957311.1:n.1235C>T | ||
| XR_002957312.1:n.1108+332C>T |