Linked Data
ClinVar Variation Id:
372896
dbSNP Id:
rs374247138
ExAC:
12:53824028 C / T
gnomAD v2:
12-53824028-C-T
gnomAD v3:
12-53430244-C-T
gnomAD v4:
12-53430244-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53430244C>T , CM000674.2:g.53430244C>T | GRCh38 |
| NC_000012.11:g.53824028C>T , CM000674.1:g.53824028C>T | GRCh37 |
| NC_000012.10:g.52110295C>T | NCBI36 |
| NG_015981.1:g.11390C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257863.9:c.1387C>T MANE Select | ENSP00000257863.3:p.Arg463Cys | |
| ENST00000257863.8:c.1387C>T | ENSP00000257863.3:p.Arg463Cys | |
| ENST00000379791.7:c.1140+619C>T | ENSP00000369117.3:n.1140+619C>T | |
| ENST00000550311.5:c.1383C>T | ENSP00000446661.1:p.Gly461= | |
| ENST00000550839.1:c.478C>T | ENSP00000455338.1:p.Arg160Cys | |
| ENST00000552233.5:n.1142C>T | ||
| NM_001164690.1:c.1383C>T | NP_001158162.1:p.Gly461= | |
| NM_001164691.1:c.1140+619C>T | NP_001158163.1:n.1140+619C>T | |
| NM_020547.2:c.1387C>T | NP_065434.1:p.Arg463Cys | |
| XM_011538173.1:c.1447C>T | XP_011536475.1:p.Arg483Cys | |
| XM_011538174.1:c.1444C>T | XP_011536476.1:p.Arg482Cys | |
| XM_011538175.1:c.1429C>T | XP_011536477.1:p.Arg477Cys | |
| XM_011538176.1:c.1390C>T | XP_011536478.1:p.Arg464Cys | |
| XM_011538177.1:c.1369C>T | XP_011536479.1:p.Arg457Cys | |
| XM_011538178.1:c.1228C>T | XP_011536480.1:p.Arg410Cys | |
| XM_011538179.1:c.1200+619C>T | XP_011536481.1:n.1200+619C>T | |
| XM_011538180.1:c.1114C>T | XP_011536482.1:p.Arg372Cys | |
| XM_011538181.1:c.1111C>T | XP_011536483.1:p.Arg371Cys | |
| XM_011538182.1:c.1036C>T | XP_011536484.1:p.Arg346Cys | |
| XM_011538183.1:c.1299C>T | XP_011536485.1:p.Gly433= | |
| XM_011538184.1:c.1220+599C>T | XP_011536486.1:n.1220+599C>T | |
| XM_011538185.1:c.856-933C>T | XP_011536487.1:n.856-933C>T | |
| XM_011538186.1:c.562C>T | XP_011536488.1:p.Arg188Cys | |
| NM_001164690.2:c.1383C>T | NP_001158162.1:p.Gly461= | |
| NM_001164691.2:c.1140+619C>T | NP_001158163.1:n.1140+619C>T | |
| NM_020547.3:c.1387C>T MANE Select | NP_065434.1:p.Arg463Cys | |
| XM_011538183.2:c.1299C>T | XP_011536485.1:p.Gly433= | |
| XM_011538184.2:c.1220+599C>T | XP_011536486.1:n.1220+599C>T | |
| XM_011538186.3:c.562C>T | XP_011536488.1:p.Arg188Cys | |
| XM_017019179.2:c.1348+266C>T | XP_016874668.1:n.1348+266C>T | |
| XM_024448938.1:c.1143+619C>T | XP_024304706.1:n.1143+619C>T | |
| XR_002957309.1:n.1355C>T | ||
| XR_002957310.1:n.1207C>T | ||
| XR_002957311.1:n.1256+266C>T | ||
| XR_002957312.1:n.1108+619C>T |