Linked Data
ClinVar Variation Id:
648368
dbSNP Id:
rs147005844
ExAC:
1:33245110 C / G
gnomAD v2:
1-33245110-C-G
gnomAD v4:
1-32779509-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32779509C>G , CM000663.2:g.32779509C>G | GRCh38 |
| NC_000001.10:g.33245110C>G , CM000663.1:g.33245110C>G | GRCh37 |
| NC_000001.9:g.33017697C>G | NCBI36 |
| NG_008408.1:g.43524G>C , LRG_273:g.43524G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.1202G>C | ENSP00000502019.1:p.Arg401Pro | |
| ENST00000373477.9:c.1349G>C MANE Select | ENSP00000362576.4:p.Arg450Pro | |
| ENST00000674629.1:c.*897G>C | ENSP00000502470.1:n.*897G>C | |
| ENST00000674654.1:c.*1309G>C | ENSP00000501729.1:n.*1309G>C | |
| ENST00000675785.1:c.1202G>C | ENSP00000502019.1:p.Arg401Pro | |
| ENST00000676297.1:c.*1523G>C | ENSP00000501596.1:n.*1523G>C | |
| ENST00000373477.8:c.1349G>C | ENSP00000362576.4:p.Arg450Pro | |
| ENST00000469100.5:n.1265G>C | ||
| ENST00000478828.1:n.816G>C | ||
| ENST00000487404.5:n.1659G>C | ||
| ENST00000490826.1:n.1203G>C | ||
| NM_003680.3:c.1349G>C , LRG_273t1:c.1349G>C | NP_003671.1:p.Arg450Pro | |
| XM_011542347.1:c.719G>C | XP_011540649.1:p.Arg240Pro | |
| XM_011542348.1:c.719G>C | XP_011540650.1:p.Arg240Pro | |
| XM_011542347.2:c.719G>C | XP_011540649.1:p.Arg240Pro | |
| XM_017002651.2:c.719G>C | XP_016858140.1:p.Arg240Pro | |
| NM_003680.4:c.1349G>C MANE Select | NP_003671.1:p.Arg450Pro |