Linked Data
ClinVar Variation Id:
1515215
ClinVar RCV Id:
RCV002020926
dbSNP Id:
rs145771774
ExAC:
5:33984616 C / G
gnomAD v2:
5-33984616-C-G
gnomAD v3:
5-33984511-C-G
gnomAD v4:
5-33984511-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33984511C>G , CM000667.2:g.33984511C>G | GRCh38 |
| NC_000005.9:g.33984616C>G , CM000667.1:g.33984616C>G | GRCh37 |
| NC_000005.8:g.34020373C>G | NCBI36 |
| NG_011691.2:g.5165G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.73G>C MANE Select | ENSP00000296589.4:p.Val25Leu | |
| ENST00000296589.8:c.73G>C | ENSP00000296589.4:p.Val25Leu | |
| ENST00000382102.7:c.73G>C | ENSP00000371534.3:p.Val25Leu | |
| ENST00000505056.1:n.52G>C | ||
| ENST00000509381.1:c.73G>C | ENSP00000421100.1:p.Val25Leu | |
| NM_001012509.3:c.73G>C | NP_001012527.1:p.Val25Leu | |
| NM_001297417.2:c.73G>C | NP_001284346.2:p.Val25Leu | |
| NM_016180.4:c.73G>C | NP_057264.3:p.Val25Leu | |
| XM_011514052.1:c.73G>C | XP_011512354.1:p.Val25Leu | |
| XR_925620.1:n.634G>C | ||
| NM_016180.5:c.73G>C MANE Select | NP_057264.4:p.Val25Leu | |
| NM_001012509.4:c.73G>C | NP_001012527.2:p.Val25Leu | |
| NM_001297417.3:c.73G>C | NP_001284346.2:p.Val25Leu | |
| NM_001297417.4:c.73G>C | NP_001284346.2:p.Val25Leu |