Linked Data
ClinVar Variation Id:
1911704
ClinVar RCV Id:
RCV002597154
dbSNP Id:
rs1467307428
gnomAD v3:
5-33984337-G-A
gnomAD v4:
5-33984337-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33984337G>A , CM000667.2:g.33984337G>A | GRCh38 |
| NC_000005.9:g.33984442G>A , CM000667.1:g.33984442G>A | GRCh37 |
| NC_000005.8:g.34020199G>A | NCBI36 |
| NG_011691.2:g.5339C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.247C>T MANE Select | ENSP00000296589.4:p.Leu83= | |
| ENST00000296589.8:c.247C>T | ENSP00000296589.4:p.Leu83= | |
| ENST00000382102.7:c.247C>T | ENSP00000371534.3:p.Leu83= | |
| ENST00000505056.1:n.226C>T | ||
| ENST00000509381.1:c.247C>T | ENSP00000421100.1:p.Leu83= | |
| NM_001012509.3:c.247C>T | NP_001012527.1:p.Leu83= | |
| NM_001297417.2:c.247C>T | NP_001284346.2:p.Leu83= | |
| NM_016180.4:c.247C>T | NP_057264.3:p.Leu83= | |
| XM_011514052.1:c.247C>T | XP_011512354.1:p.Leu83= | |
| XR_925620.1:n.808C>T | ||
| NM_016180.5:c.247C>T MANE Select | NP_057264.4:p.Leu83= | |
| NM_001012509.4:c.247C>T | NP_001012527.2:p.Leu83= | |
| NM_001297417.3:c.247C>T | NP_001284346.2:p.Leu83= | |
| NM_001297417.4:c.247C>T | NP_001284346.2:p.Leu83= |