Linked Data
ClinVar Variation Id:
1681473
ClinVar RCV Id:
RCV002239038
dbSNP Id:
rs145242872
ExAC:
1:33241666 G / A
gnomAD v2:
1-33241666-G-A
gnomAD v3:
1-32776065-G-A
gnomAD v4:
1-32776065-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32776065G>A , CM000663.2:g.32776065G>A | GRCh38 |
| NC_000001.10:g.33241666G>A , CM000663.1:g.33241666G>A | GRCh37 |
| NC_000001.9:g.33014253G>A | NCBI36 |
| NG_008408.1:g.46968C>T , LRG_273:g.46968C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.1356C>T | ENSP00000502019.1:p.Cys452= | |
| ENST00000373477.9:c.1503C>T MANE Select | ENSP00000362576.4:p.Cys501= | |
| ENST00000674629.1:c.*1051C>T | ENSP00000502470.1:n.*1051C>T | |
| ENST00000674654.1:c.*1463C>T | ENSP00000501729.1:n.*1463C>T | |
| ENST00000675785.1:c.1356C>T | ENSP00000502019.1:p.Cys452= | |
| ENST00000676297.1:c.*1677C>T | ENSP00000501596.1:n.*1677C>T | |
| ENST00000373477.8:c.1503C>T | ENSP00000362576.4:p.Cys501= | |
| ENST00000469100.5:n.1419C>T | ||
| ENST00000478828.1:n.970C>T | ||
| ENST00000487404.5:n.1813C>T | ||
| ENST00000490826.1:n.1357C>T | ||
| NM_003680.3:c.1503C>T , LRG_273t1:c.1503C>T | NP_003671.1:p.Cys501= | |
| XM_011542347.1:c.873C>T | XP_011540649.1:p.Cys291= | |
| XM_011542348.1:c.873C>T | XP_011540650.1:p.Cys291= | |
| XM_011542347.2:c.873C>T | XP_011540649.1:p.Cys291= | |
| XM_017002651.2:c.873C>T | XP_016858140.1:p.Cys291= | |
| NM_003680.4:c.1503C>T MANE Select | NP_003671.1:p.Cys501= |