Linked Data
dbSNP Id:
rs755929592
ExAC:
16:14041813 A / G
gnomAD v2:
16-14041813-A-G
gnomAD v3:
16-13947956-A-G
gnomAD v4:
16-13947956-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947956A>G , CM000678.2:g.13947956A>G | GRCh38 |
| NC_000016.9:g.14041813A>G , CM000678.1:g.14041813A>G | GRCh37 |
| NC_000016.8:g.13949314A>G | NCBI36 |
| NG_011442.1:g.32800A>G , LRG_463:g.32800A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2498A>G | ENSP00000507912.1:p.Lys833Arg | |
| ENST00000683962.1:c.*2054A>G | ENSP00000506854.1:n.*2054A>G | |
| ENST00000311895.8:c.2360A>G MANE Select | ENSP00000310520.7:p.Lys787Arg | |
| ENST00000311895.7:c.2360A>G | ENSP00000310520.7:p.Lys787Arg | |
| ENST00000389138.7:n.1637A>G | ||
| ENST00000462862.1:c.673A>G | ENSP00000461322.1:n.673A>G | |
| NM_005236.2:c.2360A>G , LRG_463t1:c.2360A>G | NP_005227.1:p.Lys787Arg | |
| XM_011522424.1:c.2498A>G | XP_011520726.1:p.Lys833Arg | |
| XM_011522425.1:c.1817A>G | XP_011520727.1:p.Lys606Arg | |
| XM_011522426.1:c.1571A>G | XP_011520728.1:p.Lys524Arg | |
| XM_011522427.1:c.1010A>G | XP_011520729.1:p.Lys337Arg | |
| XR_932805.1:n.2519A>G | ||
| XM_011522424.3:c.2498A>G | XP_011520726.1:p.Lys833Arg | |
| XM_017023043.2:c.1571A>G | XP_016878532.1:p.Lys524Arg | |
| NM_005236.3:c.2360A>G MANE Select | NP_005227.1:p.Lys787Arg |