Linked Data
ClinVar Variation Id:
212206
ClinVar RCV Id:
RCV000193320
dbSNP Id:
rs797045970
gnomAD v3:
5-33964001-A-C
gnomAD v4:
5-33964001-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33964001A>C , CM000667.2:g.33964001A>C | GRCh38 |
| NC_000005.9:g.33964106A>C , CM000667.1:g.33964106A>C | GRCh37 |
| NC_000005.8:g.33999863A>C | NCBI36 |
| NG_011691.2:g.25675T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296589.9:c.578T>G MANE Select | ENSP00000296589.4:p.Leu193Arg | |
| ENST00000296589.8:c.578T>G | ENSP00000296589.4:p.Leu193Arg | |
| ENST00000382102.7:c.578T>G | ENSP00000371534.3:p.Leu193Arg | |
| ENST00000505056.1:n.380T>G | ||
| ENST00000509381.1:c.563-9497T>G | ENSP00000421100.1:n.563-9497T>G | |
| ENST00000510600.1:c.53T>G | ENSP00000424010.1:p.Leu18Arg | |
| NM_001012509.3:c.578T>G | NP_001012527.1:p.Leu193Arg | |
| NM_001297417.2:c.563-9497T>G | NP_001284346.2:n.563-9497T>G | |
| NM_016180.4:c.578T>G | NP_057264.3:p.Leu193Arg | |
| XM_011514051.1:c.176T>G | XP_011512353.1:p.Leu59Arg | |
| XM_011514052.1:c.578T>G | XP_011512354.1:p.Leu193Arg | |
| XR_925620.1:n.1395T>G | ||
| NM_016180.5:c.578T>G MANE Select | NP_057264.4:p.Leu193Arg | |
| NM_001012509.4:c.578T>G | NP_001012527.2:p.Leu193Arg | |
| NM_001297417.3:c.563-9497T>G | NP_001284346.2:n.563-9497T>G | |
| NM_001297417.4:c.563-9497T>G | NP_001284346.2:n.563-9497T>G |