Linked Data
dbSNP Id:
rs2032555651
gnomAD v4:
16-13948041-G-A
MyVariant Identifiers:
chr16:g.14041898G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948041G>A , CM000678.2:g.13948041G>A | GRCh38 |
| NC_000016.9:g.14041898G>A , CM000678.1:g.14041898G>A | GRCh37 |
| NC_000016.8:g.13949399G>A | NCBI36 |
| NG_011442.1:g.32885G>A , LRG_463:g.32885G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2583G>A | ENSP00000507912.1:p.Glu861= | |
| ENST00000683962.1:c.*2139G>A | ENSP00000506854.1:n.*2139G>A | |
| ENST00000311895.8:c.2445G>A MANE Select | ENSP00000310520.7:p.Glu815= | |
| ENST00000311895.7:c.2445G>A | ENSP00000310520.7:p.Glu815= | |
| ENST00000389138.7:n.1722G>A | ||
| NM_005236.2:c.2445G>A , LRG_463t1:c.2445G>A | NP_005227.1:p.Glu815= | |
| XM_011522424.1:c.2583G>A | XP_011520726.1:p.Glu861= | |
| XM_011522425.1:c.1902G>A | XP_011520727.1:p.Glu634= | |
| XM_011522426.1:c.1656G>A | XP_011520728.1:p.Glu552= | |
| XM_011522427.1:c.1095G>A | XP_011520729.1:p.Glu365= | |
| XR_932805.1:n.2604G>A | ||
| XM_011522424.3:c.2583G>A | XP_011520726.1:p.Glu861= | |
| XM_017023043.2:c.1656G>A | XP_016878532.1:p.Glu552= | |
| NM_005236.3:c.2445G>A MANE Select | NP_005227.1:p.Glu815= |