Linked Data
ClinVar Variation Id:
1358678
ClinVar RCV Id:
RCV001894287
dbSNP Id:
rs146913714
ExAC:
5:33984478 T / C
gnomAD v2:
5-33984478-T-C
gnomAD v3:
5-33984373-T-C
gnomAD v4:
5-33984373-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33984373T>C , CM000667.2:g.33984373T>C | GRCh38 |
| NC_000005.9:g.33984478T>C , CM000667.1:g.33984478T>C | GRCh37 |
| NC_000005.8:g.34020235T>C | NCBI36 |
| NG_011691.2:g.5303A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.211A>G MANE Select | ENSP00000296589.4:p.Ser71Gly | |
| ENST00000296589.8:c.211A>G | ENSP00000296589.4:p.Ser71Gly | |
| ENST00000382102.7:c.211A>G | ENSP00000371534.3:p.Ser71Gly | |
| ENST00000505056.1:n.190A>G | ||
| ENST00000509381.1:c.211A>G | ENSP00000421100.1:p.Ser71Gly | |
| NM_001012509.3:c.211A>G | NP_001012527.1:p.Ser71Gly | |
| NM_001297417.2:c.211A>G | NP_001284346.2:p.Ser71Gly | |
| NM_016180.4:c.211A>G | NP_057264.3:p.Ser71Gly | |
| XM_011514052.1:c.211A>G | XP_011512354.1:p.Ser71Gly | |
| XR_925620.1:n.772A>G | ||
| NM_016180.5:c.211A>G MANE Select | NP_057264.4:p.Ser71Gly | |
| NM_001012509.4:c.211A>G | NP_001012527.2:p.Ser71Gly | |
| NM_001297417.3:c.211A>G | NP_001284346.2:p.Ser71Gly | |
| NM_001297417.4:c.211A>G | NP_001284346.2:p.Ser71Gly |