Linked Data
ClinVar Variation Id:
1083964
ClinVar RCV Id:
RCV001400830
dbSNP Id:
rs2117255801
MyVariant Identifiers:
chr8:g.24813883G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956369G>C , CM000670.2:g.24956369G>C | GRCh38 |
| NC_000008.10:g.24813883G>C , CM000670.1:g.24813883G>C | GRCh37 |
| NC_000008.9:g.24869800G>C | NCBI36 |
| NG_008492.1:g.5249C>G , LRG_259:g.5249C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.147C>G MANE Select | ENSP00000482169.2:p.Ser49= | |
| ENST00000610854.1:c.147C>G | ENSP00000482169.1:p.Ser49= | |
| ENST00000615973.1:n.353C>G | ||
| ENST00000619417.1:c.147C>G | ENSP00000483690.1:p.Ser49= | |
| NM_006158.4:c.147C>G , LRG_259t1:c.147C>G | NP_006149.2:p.Ser49= | |
| NM_006158.5:c.147C>G MANE Select | NP_006149.2:p.Ser49= |