Linked Data
ClinVar Variation Id:
1951953
ClinVar RCV Id:
RCV002676619
gnomAD v4:
13-39682199-A-G
MyVariant Identifiers:
chr13:g.40256336A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39682199A>G , CM000675.2:g.39682199A>G | GRCh38 |
| NC_000013.10:g.40256336A>G , CM000675.1:g.40256336A>G | GRCh37 |
| NC_000013.9:g.39154336A>G | NCBI36 |
| NG_028352.1:g.31573A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.723A>G MANE Select | ENSP00000397441.2:p.Ser241= | |
| ENST00000356576.8:c.*560A>G | ENSP00000348983.4:n.*560A>G | |
| ENST00000416691.5:c.723A>G | ENSP00000403733.1:p.Ser241= | |
| ENST00000455146.7:c.723A>G | ENSP00000397441.2:p.Ser241= | |
| ENST00000465775.1:n.479A>G | ||
| ENST00000536488.5:c.455A>G | ||
| ENST00000537156.1:n.374A>G | ||
| NM_001145079.1:c.723A>G | NP_001138551.1:p.Ser241= | |
| NM_020751.2:c.723A>G | NP_065802.1:p.Ser241= | |
| NR_026745.1:n.888A>G | ||
| XM_011535168.1:c.723A>G | XP_011533470.1:p.Ser241= | |
| XM_011535169.1:c.567A>G | XP_011533471.1:p.Ser189= | |
| XM_011535170.1:c.567A>G | XP_011533472.1:p.Ser189= | |
| NM_020751.3:c.723A>G MANE Select | NP_065802.1:p.Ser241= | |
| NM_001145079.2:c.723A>G | NP_001138551.1:p.Ser241= |