Linked Data
dbSNP Id:
rs1567248147
gnomAD v2:
16-14029440-C-G
gnomAD v4:
16-13935583-C-G
MyVariant Identifiers:
chr16:g.14029440C>G (hg19)
chr16:g.14029440_14029441delinsGT (hg19)
chr16:g.13935583C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13935583C>G , CM000678.2:g.13935583C>G | GRCh38 |
| NC_000016.9:g.14029440C>G , CM000678.1:g.14029440C>G | GRCh37 |
| NC_000016.8:g.13936941C>G | NCBI36 |
| NG_011442.1:g.20427C>G , LRG_463:g.20427C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682568.1:n.1729C>G | ||
| ENST00000682617.1:c.1789C>G | ENSP00000507912.1:p.Leu597Val | |
| ENST00000682826.1:c.*965C>G | ENSP00000507274.1:n.*965C>G | |
| ENST00000682909.1:n.3691C>G | ||
| ENST00000683277.1:n.3296C>G | ||
| ENST00000683407.1:n.1659C>G | ||
| ENST00000683962.1:c.*1345C>G | ENSP00000506854.1:n.*1345C>G | |
| ENST00000311895.8:c.1651C>G MANE Select | ENSP00000310520.7:p.Leu551Val | |
| ENST00000311895.7:c.1651C>G | ENSP00000310520.7:p.Leu551Val | |
| ENST00000389138.7:n.928C>G | ||
| NM_005236.2:c.1651C>G , LRG_463t1:c.1651C>G | NP_005227.1:p.Leu551Val | |
| XM_011522424.1:c.1789C>G | XP_011520726.1:p.Leu597Val | |
| XM_011522425.1:c.1108C>G | XP_011520727.1:p.Leu370Val | |
| XM_011522426.1:c.862C>G | XP_011520728.1:p.Leu288Val | |
| XM_011522427.1:c.301C>G | XP_011520729.1:p.Leu101Val | |
| XR_932805.1:n.1810C>G | ||
| XM_011522424.3:c.1789C>G | XP_011520726.1:p.Leu597Val | |
| XM_017023043.2:c.862C>G | XP_016878532.1:p.Leu288Val | |
| NM_005236.3:c.1651C>G MANE Select | NP_005227.1:p.Leu551Val |