Linked Data
ClinVar Variation Id:
2008853
ClinVar RCV Id:
RCV002828924
dbSNP Id:
rs1836141789
gnomAD v3:
8-144095956-A-G
gnomAD v4:
8-144095956-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144095956A>G , CM000670.2:g.144095956A>G | GRCh38 |
| NC_000008.10:g.145150859A>G , CM000670.1:g.145150859A>G | GRCh37 |
| NC_000008.9:g.145222847A>G | NCBI36 |
| NG_033872.1:g.5922A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318911.5:c.253A>G MANE Select | ENSP00000317159.4:p.Ser85Gly | |
| ENST00000318911.4:c.253A>G | ENSP00000317159.4:p.Ser85Gly | |
| ENST00000528618.1:n.471A>G | ||
| ENST00000533444.1:n.918A>G | ||
| NM_001916.4:c.253A>G | NP_001907.2:p.Ser85Gly | |
| XM_017013102.1:c.76A>G | XP_016868591.1:p.Ser26Gly | |
| XM_024447072.1:c.76A>G | XP_024302840.1:p.Ser26Gly | |
| NM_001916.5:c.253A>G MANE Select | NP_001907.3:p.Ser85Gly |