Linked Data
ClinVar Variation Id:
1135603
ClinVar RCV Id:
RCV001470924
dbSNP Id:
rs1165544582
gnomAD v3:
17-75765044-G-C
gnomAD v4:
17-75765044-G-C
MyVariant Identifiers:
chr17:g.73761125G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75765044G>C , CM000679.2:g.75765044G>C | GRCh38 |
| NC_000017.10:g.73761125G>C , CM000679.1:g.73761125G>C | GRCh37 |
| NC_000017.9:g.71272720G>C | NCBI36 |
| NG_008079.1:g.5156C>G | |
| NG_008079.2:g.5156C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000587707.2:c.93C>G | ENSP00000468341.2:p.Ala31= | |
| ENST00000592997.6:c.93C>G | ENSP00000464765.2:p.Ala31= | |
| ENST00000588479.6:c.93C>G MANE Select | ENSP00000465930.1:p.Ala31= | |
| ENST00000225614.6:c.93C>G | ENSP00000225614.1:p.Ala31= | |
| ENST00000586244.1:c.93C>G | ENSP00000468288.1:p.Ala31= | |
| ENST00000588479.5:c.93C>G | ENSP00000465930.1:p.Ala31= | |
| ENST00000589030.1:n.90C>G | ||
| ENST00000592494.1:n.114C>G | ||
| NM_000154.1:c.93C>G | NP_000145.1:p.Ala31= | |
| NM_000154.2:c.93C>G MANE Select | NP_000145.1:p.Ala31= | |
| NM_001381985.1:c.93C>G | NP_001368914.1:p.Ala31= |