Linked Data
ClinVar Variation Id:
2189247
ClinVar RCV Id:
RCV002636749
dbSNP Id:
rs79975375
ExAC:
16:51175566 G / C
gnomAD v2:
16-51175566-G-C
gnomAD v3:
16-51141655-G-C
gnomAD v4:
16-51141655-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.51141655G>C , CM000678.2:g.51141655G>C | GRCh38 |
| NC_000016.9:g.51175566G>C , CM000678.1:g.51175566G>C | GRCh37 |
| NC_000016.8:g.49733067G>C | NCBI36 |
| NG_007990.1:g.14618C>G , LRG_674:g.14618C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440970.6:c.567C>G | ENSP00000407914.2:p.Ser189= | |
| ENST00000570206.2:c.276C>G | ENSP00000456777.2:p.Ser92= | |
| ENST00000685868.1:c.567C>G | ENSP00000509873.1:p.Ser189= | |
| ENST00000690502.1:c.567C>G | ENSP00000510560.1:p.Ser189= | |
| ENST00000251020.9:c.567C>G MANE Select | ENSP00000251020.4:p.Ser189= | |
| ENST00000251020.8:c.567C>G | ENSP00000251020.4:p.Ser189= | |
| ENST00000440970.5:c.276C>G | ENSP00000407914.1:p.Ser92= | |
| ENST00000566102.1:c.77-4103C>G | ENSP00000455582.1:n.77-4103C>G | |
| ENST00000570206.1:c.276C>G | ENSP00000456777.1:p.Ser92= | |
| NM_001127892.1:c.276C>G | NP_001121364.1:p.Ser92= | |
| NM_002968.2:c.567C>G , LRG_674t1:c.567C>G | NP_002959.2:p.Ser189= | |
| XM_006721241.2:c.567C>G | XP_006721304.1:p.Ser189= | |
| XM_011523254.1:c.567C>G | XP_011521556.1:p.Ser189= | |
| XM_011523255.1:c.567C>G | XP_011521557.1:p.Ser189= | |
| NM_002968.3:c.567C>G MANE Select | NP_002959.2:p.Ser189= | |
| NM_001127892.2:c.276C>G | NP_001121364.1:p.Ser92= |