Linked Data
ClinVar Variation Id:
1005886
ClinVar RCV Id:
RCV001302834
dbSNP Id:
rs781524524
ExAC:
13:40253690 C / A
gnomAD v2:
13-40253690-C-A
gnomAD v3:
13-39679553-C-A
gnomAD v4:
13-39679553-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39679553C>A , CM000675.2:g.39679553C>A | GRCh38 |
| NC_000013.10:g.40253690C>A , CM000675.1:g.40253690C>A | GRCh37 |
| NC_000013.9:g.39151690C>A | NCBI36 |
| NG_028352.1:g.28927C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.556C>A MANE Select | ENSP00000397441.2:p.Leu186Met | |
| ENST00000356576.8:c.*393C>A | ENSP00000348983.4:n.*393C>A | |
| ENST00000416691.5:c.556C>A | ENSP00000403733.1:p.Leu186Met | |
| ENST00000455146.7:c.556C>A | ENSP00000397441.2:p.Leu186Met | |
| ENST00000536488.5:c.356-422C>A | ||
| ENST00000537156.1:n.207C>A | ||
| NM_001145079.1:c.556C>A | NP_001138551.1:p.Leu186Met | |
| NM_020751.2:c.556C>A | NP_065802.1:p.Leu186Met | |
| NR_026745.1:n.721C>A | ||
| XM_011535168.1:c.556C>A | XP_011533470.1:p.Leu186Met | |
| XM_011535169.1:c.400C>A | XP_011533471.1:p.Leu134Met | |
| XM_011535170.1:c.400C>A | XP_011533472.1:p.Leu134Met | |
| NM_020751.3:c.556C>A MANE Select | NP_065802.1:p.Leu186Met | |
| NM_001145079.2:c.556C>A | NP_001138551.1:p.Leu186Met |