Linked Data
dbSNP Id:
rs2141621586
gnomAD v4:
16-13948335-A-G
MyVariant Identifiers:
chr16:g.14042192A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948335A>G , CM000678.2:g.13948335A>G | GRCh38 |
| NC_000016.9:g.14042192A>G , CM000678.1:g.14042192A>G | GRCh37 |
| NC_000016.8:g.13949693A>G | NCBI36 |
| NG_011442.1:g.33179A>G , LRG_463:g.33179A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2877A>G | ENSP00000507912.1:p.Lys959= | |
| ENST00000683962.1:c.*2433A>G | ENSP00000506854.1:n.*2433A>G | |
| ENST00000311895.8:c.2739A>G MANE Select | ENSP00000310520.7:p.Lys913= | |
| ENST00000311895.7:c.2739A>G | ENSP00000310520.7:p.Lys913= | |
| ENST00000389138.7:n.2016A>G | ||
| NM_005236.2:c.2739A>G , LRG_463t1:c.2739A>G | NP_005227.1:p.Lys913= | |
| XM_011522424.1:c.2877A>G | XP_011520726.1:p.Lys959= | |
| XM_011522425.1:c.2196A>G | XP_011520727.1:p.Lys732= | |
| XM_011522426.1:c.1950A>G | XP_011520728.1:p.Lys650= | |
| XM_011522427.1:c.1389A>G | XP_011520729.1:p.Lys463= | |
| XR_932805.1:n.2898A>G | ||
| XM_011522424.3:c.2877A>G | XP_011520726.1:p.Lys959= | |
| XM_017023043.2:c.1950A>G | XP_016878532.1:p.Lys650= | |
| NM_005236.3:c.2739A>G MANE Select | NP_005227.1:p.Lys913= |