Linked Data
ClinVar Variation Id:
1991514
ClinVar RCV Id:
RCV002790678
gnomAD v4:
5-60887473-T-C
MyVariant Identifiers:
chr5:g.60183300T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60887473T>C , CM000667.2:g.60887473T>C | GRCh38 |
| NC_000005.9:g.60183300T>C , CM000667.1:g.60183300T>C | GRCh37 |
| NC_000005.8:g.60219057T>C | NCBI36 |
| NG_009289.1:g.62606A>G , LRG_466:g.62606A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439176.6:c.855+10803A>G | ENSP00000408344.2:n.855+10803A>G | |
| ENST00000647431.2:c.1190A>G | ENSP00000494726.2:n.1190A>G | |
| ENST00000675042.2:c.915A>G | ENSP00000502082.2:p.Pro305= | |
| ENST00000675452.2:c.*1054A>G | ENSP00000506954.1:n.*1054A>G | |
| ENST00000682217.1:c.891A>G | ENSP00000507570.1:p.Pro297= | |
| ENST00000682375.1:c.*919A>G | ENSP00000507551.1:n.*919A>G | |
| ENST00000683052.1:c.891A>G | ENSP00000507072.1:p.Pro297= | |
| ENST00000683216.1:n.4726A>G | ||
| ENST00000683460.1:c.*2526A>G | ENSP00000507820.1:n.*2526A>G | |
| ENST00000683688.1:n.2835A>G | ||
| ENST00000684621.1:n.947A>G | ||
| ENST00000265038.10:c.1146A>G | ENSP00000265038.6:p.Pro382= | |
| ENST00000643034.1:c.*981A>G | ENSP00000496080.1:n.*981A>G | |
| ENST00000643708.1:c.*919A>G | ENSP00000494199.1:n.*919A>G | |
| ENST00000647431.1:c.1141A>G | ||
| ENST00000675378.1:c.*90A>G | ENSP00000502535.1:n.*90A>G | |
| ENST00000675452.1:n.1338A>G | ||
| ENST00000676185.1:c.1089A>G MANE Select | ENSP00000501614.1:p.Pro363= | |
| ENST00000265038.9:c.1089A>G | ENSP00000265038.5:p.Pro363= | |
| ENST00000381118.7:c.*1133A>G | ENSP00000370510.3:n.*1133A>G | |
| ENST00000462279.5:n.2541A>G | ||
| NM_000082.3:c.1089A>G , LRG_466t1:c.1089A>G | NP_000073.1:p.Pro363= | |
| NM_001007233.2:c.915A>G | NP_001007234.1:p.Pro305= | |
| NM_001290285.1:c.630A>G | NP_001277214.1:p.Pro210= | |
| NM_000082.4:c.1089A>G MANE Select | NP_000073.1:p.Pro363= | |
| NM_001007233.3:c.915A>G | NP_001007234.1:p.Pro305= | |
| NM_001290285.2:c.630A>G | NP_001277214.1:p.Pro210= |