Linked Data
ClinVar Variation Id:
1118042
dbSNP Id:
rs2101513857
MyVariant Identifiers:
chr1:g.17349175C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022680C>T , CM000663.2:g.17022680C>T | GRCh38 |
| NC_000001.10:g.17349175C>T , CM000663.1:g.17349175C>T | GRCh37 |
| NC_000001.9:g.17221762C>T | NCBI36 |
| NG_012340.1:g.36491G>A , LRG_316:g.36491G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.522G>A | ENSP00000481376.2:p.Leu174= | |
| ENST00000491274.6:c.651G>A | ENSP00000480482.2:p.Leu217= | |
| ENST00000375499.8:c.693G>A MANE Select | ENSP00000364649.3:p.Leu231= | |
| ENST00000375499.7:c.693G>A | ENSP00000364649.3:p.Leu231= | |
| ENST00000475049.5:n.118G>A | ||
| ENST00000485092.5:n.357G>A | ||
| ENST00000485515.5:n.627G>A | ||
| NM_003000.2:c.693G>A , LRG_316t1:c.693G>A | NP_002991.2:p.Leu231= | |
| NM_003000.3:c.693G>A MANE Select | NP_002991.2:p.Leu231= |