Linked Data
ClinVar Variation Id:
760976
ClinVar RCV Id:
RCV001449257
dbSNP Id:
rs778565234
ExAC:
16:68853258 G / A
gnomAD v4:
16-68819355-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68819355G>A , CM000678.2:g.68819355G>A | GRCh38 |
| NC_000016.9:g.68853258G>A , CM000678.1:g.68853258G>A | GRCh37 |
| NC_000016.8:g.67410759G>A | NCBI36 |
| NG_008021.1:g.87064G>A , LRG_301:g.87064G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1641G>A MANE Select | ENSP00000261769.4:p.Glu547= | |
| ENST00000261769.9:c.1641G>A | ENSP00000261769.4:p.Glu547= | |
| ENST00000422392.6:c.1458G>A | ENSP00000414946.2:p.Glu486= | |
| ENST00000562836.5:n.1712G>A | ||
| ENST00000566510.5:c.*307G>A | ENSP00000458139.1:n.*307G>A | |
| ENST00000566612.5:c.1566-2646G>A | ENSP00000454782.1:n.1566-2646G>A | |
| ENST00000611625.4:c.1704G>A | ENSP00000481063.1:p.Glu568= | |
| ENST00000612417.4:c.1641G>A | ENSP00000478360.1:p.Glu547= | |
| ENST00000621016.4:c.1641G>A | ENSP00000480664.1:p.Glu547= | |
| NM_004360.3:c.1641G>A , LRG_301t1:c.1641G>A | NP_004351.1:p.Glu547= | |
| XM_011523488.1:c.906G>A | XP_011521790.1:p.Glu302= | |
| XM_011523489.1:c.906G>A | XP_011521791.1:p.Glu302= | |
| NM_001317184.1:c.1458G>A | NP_001304113.1:p.Glu486= | |
| NM_001317185.1:c.93G>A | NP_001304114.1:p.Glu31= | |
| NM_001317186.1:c.-254-2646G>A | NP_001304115.1:n.-254-2646G>A | |
| NM_004360.4:c.1641G>A | NP_004351.1:p.Glu547= | |
| NM_004360.5:c.1641G>A MANE Select | NP_004351.1:p.Glu547= | |
| NM_001317184.2:c.1458G>A | NP_001304113.1:p.Glu486= | |
| NM_001317185.2:c.93G>A | NP_001304114.1:p.Glu31= | |
| NM_001317186.2:c.-254-2646G>A | NP_001304115.1:n.-254-2646G>A |