Linked Data
ClinVar Variation Id:
1125825
ClinVar RCV Id:
RCV001457639
dbSNP Id:
rs762600466
ExAC:
8:19809402 C / G
gnomAD v2:
8-19809402-C-G
gnomAD v4:
8-19951891-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951891C>G , CM000670.2:g.19951891C>G | GRCh38 |
| NC_000008.10:g.19809402C>G , CM000670.1:g.19809402C>G | GRCh37 |
| NC_000008.9:g.19853682C>G | NCBI36 |
| NG_008855.1:g.17821C>G | |
| NG_008855.2:g.55175C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.372C>G MANE Select | ENSP00000497642.1:p.Ser124= | |
| ENST00000311322.8:c.372C>G | ENSP00000309757.6:p.Ser124= | |
| ENST00000520959.5:c.144C>G | ENSP00000428496.1:p.Ser48= | |
| ENST00000524029.5:c.372C>G | ENSP00000428237.1:p.Ser124= | |
| NM_000237.2:c.372C>G | NP_000228.1:p.Ser124= | |
| NM_000237.3:c.372C>G MANE Select | NP_000228.1:p.Ser124= |