Linked Data
ClinVar Variation Id:
1897127
ClinVar RCV Id:
RCV002576270
dbSNP Id:
rs1810315267
gnomAD v3:
8-93922614-A-G
gnomAD v4:
8-93922614-A-G
MyVariant Identifiers:
chr8:g.94934842A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93922614A>G , CM000670.2:g.93922614A>G | GRCh38 |
| NC_000008.10:g.94934842A>G , CM000670.1:g.94934842A>G | GRCh37 |
| NC_000008.9:g.95004018A>G | NCBI36 |
| NG_012233.1:g.10681A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297598.5:c.555A>G MANE Select | ENSP00000297598.4:p.Ala185= | |
| ENST00000297598.4:c.555A>G | ENSP00000297598.4:p.Ala185= | |
| ENST00000396200.3:c.630A>G | ENSP00000379503.3:p.Ala210= | |
| ENST00000517764.1:c.555A>G | ENSP00000430380.1:p.Ala185= | |
| ENST00000518827.1:c.555A>G | ENSP00000430655.1:p.Ala185= | |
| ENST00000520728.5:c.555A>G | ENSP00000428317.1:p.Ala185= | |
| NM_001161779.1:c.630A>G | NP_001155251.1:p.Ala210= | |
| NM_001161780.1:c.630A>G | NP_001155252.1:p.Ala210= | |
| NM_001161781.1:c.555A>G | NP_001155253.1:p.Ala185= | |
| NM_018444.3:c.555A>G | NP_060914.2:p.Ala185= | |
| XM_011517135.1:c.609A>G | XP_011515437.1:p.Ala203= | |
| XM_011517136.1:c.555A>G | XP_011515438.1:p.Ala185= | |
| XM_011517137.1:c.555A>G | XP_011515439.1:p.Ala185= | |
| XM_011517135.2:c.609A>G | XP_011515437.1:p.Ala203= | |
| XM_011517136.2:c.555A>G | XP_011515438.1:p.Ala185= | |
| XM_017013588.1:c.717A>G | XP_016869077.1:p.Ala239= | |
| NM_018444.4:c.555A>G MANE Select | NP_060914.2:p.Ala185= | |
| NM_001161780.2:c.630A>G | NP_001155252.1:p.Ala210= | |
| NM_001161781.2:c.555A>G | NP_001155253.1:p.Ala185= | |
| NM_001161779.2:c.630A>G | NP_001155251.1:p.Ala210= |