Linked Data
ClinVar Variation Id:
2152203
ClinVar RCV Id:
RCV003061601
dbSNP Id:
rs373896763
ExAC:
4:786331 T / C
gnomAD v2:
4-786331-T-C
gnomAD v3:
4-792543-T-C
gnomAD v4:
4-792543-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.792543T>C , CM000666.2:g.792543T>C | GRCh38 |
| NC_000004.11:g.786331T>C , CM000666.1:g.786331T>C | GRCh37 |
| NC_000004.10:g.776331T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304062.11:c.97A>G MANE Select | ENSP00000305613.6:p.Lys33Glu | |
| ENST00000304062.10:c.97A>G | ENSP00000305613.6:p.Lys33Glu | |
| ENST00000504062.1:c.52A>G | ENSP00000421947.1:p.Lys18Glu | |
| ENST00000505203.1:c.97A>G | ENSP00000425960.1:p.Lys33Glu | |
| ENST00000506404.1:n.150A>G | ||
| NM_006651.3:c.97A>G | NP_006642.1:p.Lys33Glu | |
| XM_011513391.1:c.52A>G | XP_011511693.1:p.Lys18Glu | |
| XR_925031.1:n.1936-2737T>C | ||
| XR_925032.1:n.1922-2737T>C | ||
| XR_002959773.1:n.2378-2737T>C | ||
| XR_925031.3:n.2296-2737T>C | ||
| XR_925032.3:n.2282-2737T>C | ||
| NM_006651.4:c.97A>G MANE Select | NP_006642.1:p.Lys33Glu |