Linked Data
ClinVar Variation Id:
2725779
ClinVar RCV Id:
RCV003508587
dbSNP Id:
rs1653002426
gnomAD v4:
1-32780095-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32780095A>C , CM000663.2:g.32780095A>C | GRCh38 |
| NC_000001.10:g.33245696A>C , CM000663.1:g.33245696A>C | GRCh37 |
| NC_000001.9:g.33018283A>C | NCBI36 |
| NG_008408.1:g.42938T>G , LRG_273:g.42938T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.1177T>G | ENSP00000502019.1:p.Cys393Gly | |
| ENST00000373477.9:c.1324T>G MANE Select | ENSP00000362576.4:p.Cys442Gly | |
| ENST00000674629.1:c.*872T>G | ENSP00000502470.1:n.*872T>G | |
| ENST00000674654.1:c.*1284T>G | ENSP00000501729.1:n.*1284T>G | |
| ENST00000675785.1:c.1177T>G | ENSP00000502019.1:p.Cys393Gly | |
| ENST00000676297.1:c.*1498T>G | ENSP00000501596.1:n.*1498T>G | |
| ENST00000373477.8:c.1324T>G | ENSP00000362576.4:p.Cys442Gly | |
| ENST00000469100.5:n.1240T>G | ||
| ENST00000478828.1:n.791T>G | ||
| ENST00000487404.5:n.1634T>G | ||
| ENST00000490826.1:n.617T>G | ||
| NM_003680.3:c.1324T>G , LRG_273t1:c.1324T>G | NP_003671.1:p.Cys442Gly | |
| XM_011542347.1:c.694T>G | XP_011540649.1:p.Cys232Gly | |
| XM_011542348.1:c.694T>G | XP_011540650.1:p.Cys232Gly | |
| XM_011542347.2:c.694T>G | XP_011540649.1:p.Cys232Gly | |
| XM_017002651.2:c.694T>G | XP_016858140.1:p.Cys232Gly | |
| NM_003680.4:c.1324T>G MANE Select | NP_003671.1:p.Cys442Gly |