Linked Data
ClinVar Variation Id:
2905971
ClinVar RCV Id:
RCV003749013
dbSNP Id:
rs1370747427
gnomAD v2:
19-11533509-C-T
gnomAD v4:
19-11422841-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11422841C>T , CM000681.2:g.11422841C>T | GRCh38 |
| NC_000019.9:g.11533509C>T , CM000681.1:g.11533509C>T | GRCh37 |
| NC_000019.8:g.11394509C>T | NCBI36 |
| NG_041777.1:g.17942G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356392.9:c.1137G>A MANE Select | ENSP00000348757.3:p.Leu379= | |
| ENST00000356392.8:c.1137G>A | ENSP00000348757.3:p.Leu379= | |
| ENST00000586836.5:c.564G>A | ENSP00000467429.1:p.Leu188= | |
| ENST00000591179.5:c.957G>A | ENSP00000466800.1:p.Leu319= | |
| ENST00000591345.5:c.*1056G>A | ENSP00000467313.1:n.*1056G>A | |
| NM_001302453.1:c.975G>A | NP_001289382.1:p.Leu325= | |
| NM_001302454.1:c.957G>A | NP_001289383.1:p.Leu319= | |
| NM_145045.4:c.1137G>A | NP_659482.3:p.Leu379= | |
| XM_017026241.1:c.*31G>A | XP_016881730.1:n.*31G>A | |
| NM_145045.5:c.1137G>A MANE Select | NP_659482.3:p.Leu379= | |
| NM_001302454.2:c.957G>A | NP_001289383.1:p.Leu319= |