Linked Data
ClinVar Variation Id:
180630
ClinVar RCV Id:
RCV000192051
dbSNP Id:
rs797044541
PubMed:
PMID:20301751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235664558C>A , CM000663.2:g.235664558C>A | GRCh38 |
| NC_000001.10:g.235827858C>A , CM000663.1:g.235827858C>A | GRCh37 |
| NC_000001.9:g.233894481C>A | NCBI36 |
| NG_007397.1:g.224083G>T , LRG_143:g.224083G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.2512G>T | ||
| ENST00000697178.1:c.*7088G>T | ENSP00000513163.1:n.*7088G>T | |
| ENST00000697235.1:c.1652G>T | ENSP00000513202.1:p.Cys551Phe | |
| ENST00000697236.1:c.4566G>T | ENSP00000513203.1:n.4566G>T | |
| ENST00000697237.1:c.1813G>T | ||
| ENST00000697238.1:n.256G>T | ||
| ENST00000697239.1:n.496G>T | ||
| ENST00000697240.1:c.3173-4G>T | ENSP00000513205.1:n.3173-4G>T | |
| ENST00000389793.7:c.11102G>T MANE Select | ENSP00000374443.2:p.Cys3701Phe | |
| ENST00000389793.6:c.11102G>T | ENSP00000374443.2:p.Cys3701Phe | |
| ENST00000389794.7:c.*6526G>T | ENSP00000374444.4:n.*6526G>T | |
| ENST00000473037.5:n.6092G>T | ||
| NM_000081.3:c.11102G>T , LRG_143t1:c.11102G>T | NP_000072.2:p.Cys3701Phe | |
| NM_001301365.1:c.11102G>T , LRG_143t2:c.11102G>T | NP_001288294.1:p.Cys3701Phe | |
| XM_011544031.1:c.11264G>T | XP_011542333.1:p.Cys3755Phe | |
| XM_011544032.1:c.11264G>T | XP_011542334.1:p.Cys3755Phe | |
| XM_011544033.1:c.11264G>T | XP_011542335.1:p.Cys3755Phe | |
| XM_011544034.1:c.11126G>T | XP_011542336.1:p.Cys3709Phe | |
| XM_011544036.1:c.8927G>T | XP_011542338.1:p.Cys2976Phe | |
| XM_011544033.2:c.11264G>T | XP_011542335.1:p.Cys3755Phe | |
| XM_011544036.2:c.8927G>T | XP_011542338.1:p.Cys2976Phe | |
| XM_017000150.1:c.11033G>T | XP_016855639.1:p.Cys3678Phe | |
| NM_000081.4:c.11102G>T MANE Select | NP_000072.2:p.Cys3701Phe |