Linked Data
ClinVar Variation Id:
127921
dbSNP Id:
rs149127230
ExAC:
16:68857469 G / A
gnomAD v2:
16-68857469-G-A
gnomAD v3:
16-68823566-G-A
gnomAD v4:
16-68823566-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68823566G>A , CM000678.2:g.68823566G>A | GRCh38 |
| NC_000016.9:g.68857469G>A , CM000678.1:g.68857469G>A | GRCh37 |
| NC_000016.8:g.67414970G>A | NCBI36 |
| NG_008021.1:g.91275G>A , LRG_301:g.91275G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2104G>A MANE Select | ENSP00000261769.4:p.Glu702Lys | |
| ENST00000261769.9:c.2104G>A | ENSP00000261769.4:p.Glu702Lys | |
| ENST00000422392.6:c.1921G>A | ENSP00000414946.2:p.Glu641Lys | |
| ENST00000562118.1:n.322G>A | ||
| ENST00000562836.5:n.2175G>A | ||
| ENST00000566510.5:c.*770G>A | ENSP00000458139.1:n.*770G>A | |
| ENST00000566612.5:c.*344G>A | ENSP00000454782.1:n.*344G>A | |
| ENST00000611625.4:c.2167G>A | ENSP00000481063.1:p.Glu723Lys | |
| ENST00000612417.4:c.1830+1447G>A | ENSP00000478360.1:n.1830+1447G>A | |
| ENST00000621016.4:c.1865+1412G>A | ENSP00000480664.1:n.1865+1412G>A | |
| NM_004360.3:c.2104G>A , LRG_301t1:c.2104G>A | NP_004351.1:p.Glu702Lys | |
| XM_011523488.1:c.1369G>A | XP_011521790.1:p.Glu457Lys | |
| XM_011523489.1:c.1369G>A | XP_011521791.1:p.Glu457Lys | |
| NM_001317184.1:c.1921G>A | NP_001304113.1:p.Glu641Lys | |
| NM_001317185.1:c.556G>A | NP_001304114.1:p.Glu186Lys | |
| NM_001317186.1:c.139G>A | NP_001304115.1:p.Glu47Lys | |
| NM_004360.4:c.2104G>A | NP_004351.1:p.Glu702Lys | |
| NM_004360.5:c.2104G>A MANE Select | NP_004351.1:p.Glu702Lys | |
| NM_001317184.2:c.1921G>A | NP_001304113.1:p.Glu641Lys | |
| NM_001317185.2:c.556G>A | NP_001304114.1:p.Glu186Lys | |
| NM_001317186.2:c.139G>A | NP_001304115.1:p.Glu47Lys |