Linked Data
ClinVar Variation Id:
238281
dbSNP Id:
rs186486235
ExAC:
4:15599051 C / T
gnomAD v2:
4-15599051-C-T
gnomAD v3:
4-15597428-C-T
gnomAD v4:
4-15597428-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15597428C>T , CM000666.2:g.15597428C>T | GRCh38 |
| NC_000004.11:g.15599051C>T , CM000666.1:g.15599051C>T | GRCh37 |
| NC_000004.10:g.15208149C>T | NCBI36 |
| NG_013035.1:g.132563C>T , LRG_697:g.132563C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.4495C>T | ENSP00000374303.8:p.Arg1499Cys | |
| ENST00000424120.6:c.4459C>T MANE Select | ENSP00000403465.1:p.Arg1487Cys | |
| ENST00000503292.6:c.4459C>T | ENSP00000421809.1:p.Arg1487Cys | |
| ENST00000506643.5:c.4312C>T | ENSP00000422931.2:p.Arg1438Cys | |
| ENST00000513035.2:n.358C>T | ||
| ENST00000514039.6:c.565C>T | ENSP00000488534.2:p.Arg189Cys | |
| ENST00000634028.2:c.4253C>T | ENSP00000488669.2:n.4253C>T | |
| ENST00000650860.2:c.*1956C>T | ENSP00000498775.1:n.*1956C>T | |
| ENST00000674945.1:c.4135C>T | ENSP00000502333.1:p.Arg1379Cys | |
| ENST00000680586.1:n.5118C>T | ||
| ENST00000389652.9:c.3957C>T | ||
| ENST00000424120.5:c.4459C>T | ENSP00000403465.1:p.Arg1487Cys | |
| ENST00000503292.5:c.4459C>T | ENSP00000421809.1:p.Arg1487Cys | |
| ENST00000506643.4:c.2728C>T | ||
| ENST00000513035.1:n.358C>T | ||
| ENST00000514039.5:c.75C>T | ||
| ENST00000634028.1:c.4265C>T | ENSP00000488669.1:n.4265C>T | |
| NM_001080522.2:c.4459C>T , LRG_697t1:c.4459C>T | NP_001073991.2:p.Arg1487Cys | |
| XM_005248177.1:c.4459C>T | XP_005248234.1:p.Arg1487Cys | |
| XM_011513869.1:c.4477C>T | XP_011512171.1:p.Arg1493Cys | |
| XM_011513870.1:c.4477C>T | XP_011512172.1:p.Arg1493Cys | |
| XM_011513871.1:c.4330C>T | XP_011512173.1:p.Arg1444Cys | |
| XM_017008482.1:c.4312C>T | XP_016863971.1:p.Arg1438Cys | |
| NM_001378615.1:c.4459C>T MANE Select | NP_001365544.1:p.Arg1487Cys | |
| NM_001378617.1:c.4312C>T | NP_001365546.1:p.Arg1438Cys |