Linked Data
dbSNP Id:
rs749688539
ExAC:
16:14041959 G / A
gnomAD v2:
16-14041959-G-A
gnomAD v3:
16-13948102-G-A
gnomAD v4:
16-13948102-G-A
COSMIC:
COSM6078370
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948102G>A , CM000678.2:g.13948102G>A | GRCh38 |
| NC_000016.9:g.14041959G>A , CM000678.1:g.14041959G>A | GRCh37 |
| NC_000016.8:g.13949460G>A | NCBI36 |
| NG_011442.1:g.32946G>A , LRG_463:g.32946G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2644G>A | ENSP00000507912.1:p.Glu882Lys | |
| ENST00000683962.1:c.*2200G>A | ENSP00000506854.1:n.*2200G>A | |
| ENST00000311895.8:c.2506G>A MANE Select | ENSP00000310520.7:p.Glu836Lys | |
| ENST00000311895.7:c.2506G>A | ENSP00000310520.7:p.Glu836Lys | |
| ENST00000389138.7:n.1783G>A | ||
| NM_005236.2:c.2506G>A , LRG_463t1:c.2506G>A | NP_005227.1:p.Glu836Lys | |
| XM_011522424.1:c.2644G>A | XP_011520726.1:p.Glu882Lys | |
| XM_011522425.1:c.1963G>A | XP_011520727.1:p.Glu655Lys | |
| XM_011522426.1:c.1717G>A | XP_011520728.1:p.Glu573Lys | |
| XM_011522427.1:c.1156G>A | XP_011520729.1:p.Glu386Lys | |
| XR_932805.1:n.2665G>A | ||
| XM_011522424.3:c.2644G>A | XP_011520726.1:p.Glu882Lys | |
| XM_017023043.2:c.1717G>A | XP_016878532.1:p.Glu573Lys | |
| NM_005236.3:c.2506G>A MANE Select | NP_005227.1:p.Glu836Lys |