Linked Data
ClinVar Variation Id:
1604323
ClinVar RCV Id:
RCV002134591
dbSNP Id:
rs200937156
gnomAD v3:
1-156875524-G-C
gnomAD v4:
1-156875524-G-C
MyVariant Identifiers:
chr1:g.156845316G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156875524G>C , CM000663.2:g.156875524G>C | GRCh38 |
| NC_000001.10:g.156845316G>C , CM000663.1:g.156845316G>C | GRCh37 |
| NC_000001.9:g.155111940G>C | NCBI36 |
| NG_007493.1:g.64775G>C , LRG_261:g.64775G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1179G>C | ENSP00000502725.1:p.Pro393= | |
| ENST00000392302.7:c.1179G>C | ENSP00000376120.3:p.Pro393= | |
| ENST00000497019.7:c.1046G>C | ENSP00000436804.2:p.Arg349Pro | |
| ENST00000524377.7:c.1359G>C MANE Select | ENSP00000431418.1:p.Pro453= | |
| ENST00000674537.1:c.1179G>C | ENSP00000502725.1:p.Pro393= | |
| ENST00000358660.3:c.1341G>C | ENSP00000351486.3:p.Pro447= | |
| ENST00000368196.7:c.1341G>C | ENSP00000357179.3:p.Pro447= | |
| ENST00000392302.6:c.1251G>C | ENSP00000376120.2:p.Pro417= | |
| ENST00000497019.6:c.1118G>C | ENSP00000436804.1:p.Arg373Pro | |
| ENST00000524377.5:c.1359G>C | ENSP00000431418.1:p.Pro453= | |
| ENST00000530298.5:n.1399G>C | ||
| ENST00000534682.1:n.582G>C | ||
| NM_001007792.1:c.1251G>C , LRG_261t1:c.1251G>C | NP_001007793.1:p.Pro417= | |
| NM_001012331.1:c.1341G>C , LRG_261t2:c.1341G>C | NP_001012331.1:p.Pro447= | |
| NM_002529.3:c.1359G>C , LRG_261t3:c.1359G>C | NP_002520.2:p.Pro453= | |
| NM_001012331.2:c.1341G>C | NP_001012331.1:p.Pro447= | |
| NM_002529.4:c.1359G>C MANE Select | NP_002520.2:p.Pro453= |