Linked Data
ClinVar Variation Id:
2918533
ClinVar RCV Id:
RCV003739068
dbSNP Id:
rs1181282933
gnomAD v2:
5-33963982-C-T
gnomAD v4:
5-33963877-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33963877C>T , CM000667.2:g.33963877C>T | GRCh38 |
| NC_000005.9:g.33963982C>T , CM000667.1:g.33963982C>T | GRCh37 |
| NC_000005.8:g.33999739C>T | NCBI36 |
| NG_011691.2:g.25799G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.702G>A MANE Select | ENSP00000296589.4:p.Leu234= | |
| ENST00000296589.8:c.702G>A | ENSP00000296589.4:p.Leu234= | |
| ENST00000382102.7:c.702G>A | ENSP00000371534.3:p.Leu234= | |
| ENST00000505056.1:n.504G>A | ||
| ENST00000509381.1:c.563-9373G>A | ENSP00000421100.1:n.563-9373G>A | |
| ENST00000510600.1:c.177G>A | ENSP00000424010.1:p.Leu59= | |
| NM_001012509.3:c.702G>A | NP_001012527.1:p.Leu234= | |
| NM_001297417.2:c.563-9373G>A | NP_001284346.2:n.563-9373G>A | |
| NM_016180.4:c.702G>A | NP_057264.3:p.Leu234= | |
| XM_011514051.1:c.300G>A | XP_011512353.1:p.Leu100= | |
| XM_011514052.1:c.702G>A | XP_011512354.1:p.Leu234= | |
| XR_925620.1:n.1519G>A | ||
| NM_016180.5:c.702G>A MANE Select | NP_057264.4:p.Leu234= | |
| NM_001012509.4:c.702G>A | NP_001012527.2:p.Leu234= | |
| NM_001297417.3:c.563-9373G>A | NP_001284346.2:n.563-9373G>A | |
| NM_001297417.4:c.563-9373G>A | NP_001284346.2:n.563-9373G>A |