Linked Data
ClinVar Variation Id:
1126100
ClinVar RCV Id:
RCV001458027
dbSNP Id:
rs2101541448
MyVariant Identifiers:
chr1:g.17371309T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044814T>C , CM000663.2:g.17044814T>C | GRCh38 |
| NC_000001.10:g.17371309T>C , CM000663.1:g.17371309T>C | GRCh37 |
| NC_000001.9:g.17243896T>C | NCBI36 |
| NG_012340.1:g.14357A>G , LRG_316:g.14357A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-25A>G | ENSP00000481376.2:n.-25A>G | |
| ENST00000491274.6:c.105A>G | ENSP00000480482.2:p.Pro35= | |
| ENST00000375499.8:c.147A>G MANE Select | ENSP00000364649.3:p.Pro49= | |
| ENST00000375499.7:c.147A>G | ENSP00000364649.3:p.Pro49= | |
| ENST00000463045.2:c.-25A>G | ENSP00000481376.1:n.-25A>G | |
| ENST00000466613.2:n.159A>G | ||
| ENST00000475506.1:n.64A>G | ||
| ENST00000485515.5:n.135A>G | ||
| ENST00000491274.5:c.105A>G | ENSP00000480482.1:p.Pro35= | |
| NM_003000.2:c.147A>G , LRG_316t1:c.147A>G | NP_002991.2:p.Pro49= | |
| NM_003000.3:c.147A>G MANE Select | NP_002991.2:p.Pro49= |