Linked Data
ClinVar Variation Id:
478090
ClinVar RCV Id:
RCV001462134
dbSNP Id:
rs369860859
ExAC:
1:16058495 C / G
gnomAD v2:
1-16058495-C-G
gnomAD v3:
1-15732000-C-G
gnomAD v4:
1-15732000-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15732000C>G , CM000663.2:g.15732000C>G | GRCh38 |
| NC_000001.10:g.16058495C>G , CM000663.1:g.16058495C>G | GRCh37 |
| NC_000001.9:g.15931082C>G | NCBI36 |
| NG_053033.1:g.55495C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375799.8:c.2577C>G MANE Select | ENSP00000364956.3:p.Ala859= | |
| ENST00000642363.1:c.2454C>G | ENSP00000494591.1:p.Ala818= | |
| ENST00000375793.2:c.2517C>G | ENSP00000364950.2:p.Ala839= | |
| ENST00000375799.7:c.2577C>G | ENSP00000364956.3:p.Ala859= | |
| ENST00000477849.1:n.393C>G | ||
| NM_015164.2:c.2577C>G | NP_055979.2:p.Ala859= | |
| XM_005245790.2:c.2517C>G | XP_005245847.1:p.Ala839= | |
| XM_005245791.3:c.1968C>G | XP_005245848.1:p.Ala656= | |
| XR_946590.1:n.2808C>G | ||
| NM_015164.3:c.2577C>G | NP_055979.2:p.Ala859= | |
| XM_005245790.4:c.2517C>G | XP_005245847.1:p.Ala839= | |
| XM_005245791.4:c.1968C>G | XP_005245848.1:p.Ala656= | |
| XM_017000757.1:c.2616C>G | XP_016856246.1:p.Ala872= | |
| XM_017000758.1:c.2556C>G | XP_016856247.1:p.Ala852= | |
| NM_015164.4:c.2577C>G MANE Select | NP_055979.2:p.Ala859= |