Linked Data
ClinVar Variation Id:
296347
ClinVar RCV Id:
RCV000391000
dbSNP Id:
rs377306581
ExAC:
1:235827838 C / T
gnomAD v2:
1-235827838-C-T
gnomAD v3:
1-235664538-C-T
gnomAD v4:
1-235664538-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235664538C>T , CM000663.2:g.235664538C>T | GRCh38 |
| NC_000001.10:g.235827838C>T , CM000663.1:g.235827838C>T | GRCh37 |
| NC_000001.9:g.233894461C>T | NCBI36 |
| NG_007397.1:g.224103G>A , LRG_143:g.224103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.2532G>A | ||
| ENST00000697178.1:c.*7108G>A | ENSP00000513163.1:n.*7108G>A | |
| ENST00000697235.1:c.1672G>A | ENSP00000513202.1:p.Val558Met | |
| ENST00000697236.1:c.4586G>A | ENSP00000513203.1:n.4586G>A | |
| ENST00000697237.1:c.1833G>A | ||
| ENST00000697238.1:n.276G>A | ||
| ENST00000697239.1:n.516G>A | ||
| ENST00000697240.1:c.3189G>A | ENSP00000513205.1:p.Pro1063= | |
| ENST00000389793.7:c.11122G>A MANE Select | ENSP00000374443.2:p.Val3708Met | |
| ENST00000389793.6:c.11122G>A | ENSP00000374443.2:p.Val3708Met | |
| ENST00000389794.7:c.*6546G>A | ENSP00000374444.4:n.*6546G>A | |
| ENST00000473037.5:n.6112G>A | ||
| NM_000081.3:c.11122G>A , LRG_143t1:c.11122G>A | NP_000072.2:p.Val3708Met | |
| NM_001301365.1:c.11122G>A , LRG_143t2:c.11122G>A | NP_001288294.1:p.Val3708Met | |
| XM_011544031.1:c.11284G>A | XP_011542333.1:p.Val3762Met | |
| XM_011544032.1:c.11284G>A | XP_011542334.1:p.Val3762Met | |
| XM_011544033.1:c.11284G>A | XP_011542335.1:p.Val3762Met | |
| XM_011544034.1:c.11146G>A | XP_011542336.1:p.Val3716Met | |
| XM_011544036.1:c.8947G>A | XP_011542338.1:p.Val2983Met | |
| XM_011544033.2:c.11284G>A | XP_011542335.1:p.Val3762Met | |
| XM_011544036.2:c.8947G>A | XP_011542338.1:p.Val2983Met | |
| XM_017000150.1:c.11053G>A | XP_016855639.1:p.Val3685Met | |
| NM_000081.4:c.11122G>A MANE Select | NP_000072.2:p.Val3708Met |