Linked Data
ClinVar Variation Id:
1567075
ClinVar RCV Id:
RCV002562311
dbSNP Id:
rs1365119112
MyVariant Identifiers:
chr1:g.241675300A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241512000A>G , CM000663.2:g.241512000A>G | GRCh38 |
| NC_000001.10:g.241675300A>G , CM000663.1:g.241675300A>G | GRCh37 |
| NC_000001.9:g.239741923A>G | NCBI36 |
| NG_012338.1:g.12755T>C , LRG_504:g.12755T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1025T>C | ||
| ENST00000682162.1:c.551T>C | ENSP00000508203.1:n.551T>C | |
| ENST00000682567.1:n.599T>C | ||
| ENST00000683521.1:c.522T>C | ENSP00000506864.1:p.Pro174= | |
| ENST00000684483.1:c.522T>C | ENSP00000507894.1:p.Pro174= | |
| ENST00000366560.4:c.522T>C MANE Select | ENSP00000355518.4:p.Pro174= | |
| ENST00000366560.3:c.522T>C | ENSP00000355518.3:p.Pro174= | |
| ENST00000497042.1:n.218T>C | ||
| NM_000143.3:c.522T>C , LRG_504t1:c.522T>C | NP_000134.2:p.Pro174= | |
| XM_011544132.1:c.294T>C | XP_011542434.1:p.Pro98= | |
| XM_011544132.2:c.294T>C | XP_011542434.1:p.Pro98= | |
| NM_000143.4:c.522T>C MANE Select | NP_000134.2:p.Pro174= |