Linked Data
ClinVar Variation Id:
2252783
ClinVar RCV Id:
RCV004113994
dbSNP Id:
rs1191128360
gnomAD v2:
20-34050247-G-C
gnomAD v4:
20-35462422-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35462422G>C , CM000682.2:g.35462422G>C | GRCh38 |
| NC_000020.10:g.34050247G>C , CM000682.1:g.34050247G>C | GRCh37 |
| NC_000020.9:g.33513661G>C | NCBI36 |
| NG_051604.1:g.12285G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706827.1:c.55G>C | ENSP00000516575.1:p.Val19Leu | |
| ENST00000706828.1:c.55G>C | ENSP00000516576.1:p.Val19Leu | |
| ENST00000706829.1:c.55G>C | ENSP00000516577.1:p.Val19Leu | |
| ENST00000706830.1:c.55G>C | ENSP00000516578.1:p.Val19Leu | |
| ENST00000397527.6:c.55G>C MANE Select | ENSP00000380661.1:p.Val19Leu | |
| ENST00000397524.5:c.55G>C | ENSP00000380658.1:p.Val19Leu | |
| ENST00000397527.5:c.55G>C | ENSP00000380661.1:p.Val19Leu | |
| ENST00000420564.5:c.55G>C | ENSP00000414651.1:p.Val19Leu | |
| ENST00000425934.5:c.55G>C | ENSP00000413827.1:p.Val19Leu | |
| ENST00000446710.5:c.55G>C | ENSP00000398747.1:p.Val19Leu | |
| ENST00000461386.5:c.55G>C | ENSP00000419137.1:p.Val19Leu | |
| NM_007186.4:c.55G>C | NP_009117.2:p.Val19Leu | |
| XM_005260262.3:c.55G>C | XP_005260319.1:p.Val19Leu | |
| XM_005260263.3:c.55G>C | XP_005260320.1:p.Val19Leu | |
| XM_005260264.3:c.55G>C | XP_005260321.1:p.Val19Leu | |
| XM_005260265.2:c.-1845G>C | XP_005260322.1:n.-1845G>C | |
| XM_006723690.2:c.55G>C | XP_006723753.1:p.Val19Leu | |
| XM_006723691.1:c.55G>C | XP_006723754.1:p.Val19Leu | |
| XM_006723692.2:c.55G>C | XP_006723755.1:p.Val19Leu | |
| XM_006723693.2:c.55G>C | XP_006723756.1:p.Val19Leu | |
| XM_006723694.2:c.55G>C | XP_006723757.1:p.Val19Leu | |
| XM_006723695.2:c.55G>C | XP_006723758.1:p.Val19Leu | |
| XM_011528517.1:c.55G>C | XP_011526819.1:p.Val19Leu | |
| XM_011528518.1:c.-320G>C | XP_011526820.1:n.-320G>C | |
| XM_011528520.1:c.55G>C | XP_011526822.1:p.Val19Leu | |
| NM_001318219.1:c.-1845G>C | NP_001305148.1:n.-1845G>C | |
| NM_007186.5:c.55G>C | NP_009117.2:p.Val19Leu | |
| XM_005260262.4:c.55G>C | XP_005260319.1:p.Val19Leu | |
| XM_005260263.4:c.55G>C | XP_005260320.1:p.Val19Leu | |
| XM_005260264.4:c.55G>C | XP_005260321.1:p.Val19Leu | |
| XM_006723690.4:c.55G>C | XP_006723753.1:p.Val19Leu | |
| XM_006723692.4:c.55G>C | XP_006723755.1:p.Val19Leu | |
| XM_006723693.4:c.55G>C | XP_006723756.1:p.Val19Leu | |
| XM_006723694.3:c.55G>C | XP_006723757.1:p.Val19Leu | |
| XM_011528517.2:c.55G>C | XP_011526819.1:p.Val19Leu | |
| XM_011528518.3:c.-320G>C | XP_011526820.1:n.-320G>C | |
| XM_017027617.1:c.55G>C | XP_016883106.1:p.Val19Leu | |
| XR_001754145.1:n.456G>C | ||
| NM_007186.6:c.55G>C MANE Select | NP_009117.2:p.Val19Leu |