Linked Data
ClinVar Variation Id:
1644813
ClinVar RCV Id:
RCV002148338
dbSNP Id:
rs2101513546
MyVariant Identifiers:
chr1:g.17349109A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022614A>G , CM000663.2:g.17022614A>G | GRCh38 |
| NC_000001.10:g.17349109A>G , CM000663.1:g.17349109A>G | GRCh37 |
| NC_000001.9:g.17221696A>G | NCBI36 |
| NG_012340.1:g.36557T>C , LRG_316:g.36557T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.588T>C | ENSP00000481376.2:p.Cys196= | |
| ENST00000491274.6:c.717T>C | ENSP00000480482.2:p.Cys239= | |
| ENST00000375499.8:c.759T>C MANE Select | ENSP00000364649.3:p.Cys253= | |
| ENST00000375499.7:c.759T>C | ENSP00000364649.3:p.Cys253= | |
| ENST00000475049.5:n.184T>C | ||
| ENST00000485092.5:n.423T>C | ||
| ENST00000485515.5:n.693T>C | ||
| NM_003000.2:c.759T>C , LRG_316t1:c.759T>C | NP_002991.2:p.Cys253= | |
| NM_003000.3:c.759T>C MANE Select | NP_002991.2:p.Cys253= |