Linked Data
ClinVar Variation Id:
744
dbSNP Id:
rs118204052
gnomAD v2:
4-15601237-C-T
gnomAD v3:
4-15599614-C-T
gnomAD v4:
4-15599614-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15599614C>T , CM000666.2:g.15599614C>T | GRCh38 |
| NC_000004.11:g.15601237C>T , CM000666.1:g.15601237C>T | GRCh37 |
| NC_000004.10:g.15210335C>T | NCBI36 |
| NG_013035.1:g.134749C>T , LRG_697:g.134749C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.4618C>T | ENSP00000374303.8:p.Arg1540Cys | |
| ENST00000424120.6:c.4582C>T MANE Select | ENSP00000403465.1:p.Arg1528Cys | |
| ENST00000503292.6:c.4582C>T | ENSP00000421809.1:p.Arg1528Cys | |
| ENST00000506643.5:c.4435C>T | ENSP00000422931.2:p.Arg1479Cys | |
| ENST00000514039.6:c.688C>T | ENSP00000488534.2:p.Arg230Cys | |
| ENST00000634028.2:c.4376C>T | ENSP00000488669.2:n.4376C>T | |
| ENST00000650860.2:c.*2079C>T | ENSP00000498775.1:n.*2079C>T | |
| ENST00000674945.1:c.4258C>T | ENSP00000502333.1:p.Arg1420Cys | |
| ENST00000680586.1:n.5241C>T | ||
| ENST00000389652.9:c.4080C>T | ||
| ENST00000424120.5:c.4582C>T | ENSP00000403465.1:p.Arg1528Cys | |
| ENST00000503292.5:c.4582C>T | ENSP00000421809.1:p.Arg1528Cys | |
| ENST00000506643.4:c.2851C>T | ||
| ENST00000514039.5:c.198C>T | ||
| ENST00000634028.1:c.4388C>T | ENSP00000488669.1:n.4388C>T | |
| NM_001080522.2:c.4582C>T , LRG_697t1:c.4582C>T | NP_001073991.2:p.Arg1528Cys | |
| XM_005248177.1:c.4582C>T | XP_005248234.1:p.Arg1528Cys | |
| XM_011513869.1:c.4600C>T | XP_011512171.1:p.Arg1534Cys | |
| XM_011513870.1:c.4600C>T | XP_011512172.1:p.Arg1534Cys | |
| XM_011513871.1:c.4453C>T | XP_011512173.1:p.Arg1485Cys | |
| XM_017008482.1:c.4435C>T | XP_016863971.1:p.Arg1479Cys | |
| NM_001378615.1:c.4582C>T MANE Select | NP_001365544.1:p.Arg1528Cys | |
| NM_001378617.1:c.4435C>T | NP_001365546.1:p.Arg1479Cys |