Linked Data
ClinVar Variation Id:
2445395
ClinVar RCV Id:
RCV003154805
dbSNP Id:
rs766652186
ExAC:
16:14029560 C / G
gnomAD v2:
16-14029560-C-G
gnomAD v4:
16-13935703-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13935703C>G , CM000678.2:g.13935703C>G | GRCh38 |
| NC_000016.9:g.14029560C>G , CM000678.1:g.14029560C>G | GRCh37 |
| NC_000016.8:g.13937061C>G | NCBI36 |
| NG_011442.1:g.20547C>G , LRG_463:g.20547C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682568.1:n.1849C>G | ||
| ENST00000682617.1:c.1909C>G | ENSP00000507912.1:p.Leu637Val | |
| ENST00000682826.1:c.*1085C>G | ENSP00000507274.1:n.*1085C>G | |
| ENST00000682909.1:n.3811C>G | ||
| ENST00000683277.1:n.3416C>G | ||
| ENST00000683407.1:n.1779C>G | ||
| ENST00000683962.1:c.*1465C>G | ENSP00000506854.1:n.*1465C>G | |
| ENST00000311895.8:c.1771C>G MANE Select | ENSP00000310520.7:p.Leu591Val | |
| ENST00000311895.7:c.1771C>G | ENSP00000310520.7:p.Leu591Val | |
| ENST00000389138.7:n.1048C>G | ||
| NM_005236.2:c.1771C>G , LRG_463t1:c.1771C>G | NP_005227.1:p.Leu591Val | |
| XM_011522424.1:c.1909C>G | XP_011520726.1:p.Leu637Val | |
| XM_011522425.1:c.1228C>G | XP_011520727.1:p.Leu410Val | |
| XM_011522426.1:c.982C>G | XP_011520728.1:p.Leu328Val | |
| XM_011522427.1:c.421C>G | XP_011520729.1:p.Leu141Val | |
| XR_932805.1:n.1930C>G | ||
| XM_011522424.3:c.1909C>G | XP_011520726.1:p.Leu637Val | |
| XM_017023043.2:c.982C>G | XP_016878532.1:p.Leu328Val | |
| NM_005236.3:c.1771C>G MANE Select | NP_005227.1:p.Leu591Val |