Linked Data
ClinVar Variation Id:
2836277
ClinVar RCV Id:
RCV003752087
dbSNP Id:
rs2066318789
MyVariant Identifiers:
chr19:g.35775715A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35284812A>G , CM000681.2:g.35284812A>G | GRCh38 |
| NC_000019.9:g.35775715A>G , CM000681.1:g.35775715A>G | GRCh37 |
| NC_000019.8:g.40467555A>G | NCBI36 |
| NG_011563.1:g.7306A>G | |
| NG_011563.2:g.7306A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222304.5:c.114A>G MANE Select | ENSP00000222304.2:p.Gln38= | |
| ENST00000222304.3:c.114A>G | ENSP00000222304.2:p.Gln38= | |
| ENST00000593580.1:n.2296A>G | ||
| ENST00000598398.5:c.114A>G | ENSP00000471894.1:p.Gln38= | |
| NM_021175.2:c.114A>G | NP_066998.1:p.Gln38= | |
| NM_021175.3:c.114A>G | NP_066998.1:p.Gln38= | |
| NM_021175.4:c.114A>G MANE Select | NP_066998.1:p.Gln38= |