Linked Data
ClinVar Variation Id:
1103192
ClinVar RCV Id:
RCV001426778
dbSNP Id:
rs1394010585
MyVariant Identifiers:
chr17:g.41052938A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42900921A>G , CM000679.2:g.42900921A>G | GRCh38 |
| NC_000017.10:g.41052938A>G , CM000679.1:g.41052938A>G | GRCh37 |
| NC_000017.9:g.38306464A>G | NCBI36 |
| NG_011808.1:g.5124A>G , LRG_147:g.5124A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.45A>G MANE Select | ENSP00000253801.1:p.Ser15= | |
| ENST00000253801.6:c.45A>G | ENSP00000253801.1:p.Ser15= | |
| ENST00000585489.1:c.45A>G | ENSP00000466202.1:p.Ser15= | |
| ENST00000588481.1:n.110A>G | ||
| ENST00000592383.5:c.45A>G | ENSP00000465958.1:p.Ser15= | |
| NM_000151.3:c.45A>G | NP_000142.2:p.Ser15= | |
| NM_001270397.1:c.45A>G | NP_001257326.1:p.Ser15= | |
| NM_000151.4:c.45A>G MANE Select | NP_000142.2:p.Ser15= | |
| NM_001270397.2:c.45A>G | NP_001257326.1:p.Ser15= |