Linked Data
ClinVar Variation Id:
221910
dbSNP Id:
rs764896402
ExAC:
14:68290344 G / A
gnomAD v2:
14-68290344-G-A
gnomAD v3:
14-67823627-G-A
gnomAD v4:
14-67823627-G-A
PubMed:
PMID:26898890
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67823627G>A , CM000676.2:g.67823627G>A | GRCh38 |
| NC_000014.8:g.68290344G>A , CM000676.1:g.68290344G>A | GRCh37 |
| NC_000014.7:g.67360097G>A | NCBI36 |
| NG_023267.1:g.8836G>A | |
| NG_023267.2:g.8849G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460526.6:c.84G>A | ENSP00000518559.1:p.Gln28= | |
| ENST00000711050.1:n.128G>A | ||
| ENST00000471583.6:c.84G>A MANE Select | ENSP00000418859.1:p.Gln28= | |
| ENST00000390683.7:c.84G>A | ENSP00000375101.4:p.Gln28= | |
| ENST00000471583.5:c.84G>A | ENSP00000418859.1:p.Gln28= | |
| ENST00000479335.5:c.84G>A | ENSP00000417408.1:p.Gln28= | |
| ENST00000485181.5:c.84G>A | ENSP00000417948.1:p.Gln28= | |
| ENST00000487270.5:c.84G>A | ENSP00000419471.1:p.Gln28= | |
| ENST00000487861.5:c.84G>A | ENSP00000419881.1:p.Gln28= | |
| ENST00000488612.5:c.84G>A | ENSP00000420061.1:p.Gln28= | |
| ENST00000553334.1:c.84G>A | ENSP00000452044.1:p.Gln28= | |
| NM_002877.5:c.84G>A | NP_002868.1:p.Gln28= | |
| NM_133509.3:c.84G>A | NP_598193.2:p.Gln28= | |
| NM_133510.3:c.84G>A | NP_598194.1:p.Gln28= | |
| XM_005267963.2:c.84G>A | XP_005268020.1:p.Gln28= | |
| XM_011537047.1:c.84G>A | XP_011535349.1:p.Gln28= | |
| XM_011537048.1:c.84G>A | XP_011535350.1:p.Gln28= | |
| XM_011537049.1:c.84G>A | XP_011535351.1:p.Gln28= | |
| XM_011537050.1:c.84G>A | XP_011535352.1:p.Gln28= | |
| XM_011537051.1:c.84G>A | XP_011535353.1:p.Gln28= | |
| XR_943503.1:n.161G>A | ||
| NM_001321809.1:c.84G>A | NP_001308738.1:p.Gln28= | |
| NM_001321810.1:c.84G>A | NP_001308739.1:p.Gln28= | |
| NM_001321812.1:c.84G>A | NP_001308741.1:p.Gln28= | |
| NM_001321814.1:c.84G>A | NP_001308743.1:p.Gln28= | |
| NM_001321815.1:c.-31G>A | NP_001308744.1:n.-31G>A | |
| NM_001321817.1:c.-372G>A | NP_001308746.1:n.-372G>A | |
| NM_001321818.1:c.84G>A | NP_001308747.1:p.Gln28= | |
| NM_001321819.1:c.84G>A | NP_001308748.1:p.Gln28= | |
| NM_001321821.1:c.84G>A | NP_001308750.1:p.Gln28= | |
| XM_011537050.3:c.84G>A | XP_011535352.1:p.Gln28= | |
| XM_017021545.2:c.84G>A | XP_016877034.1:p.Gln28= | |
| NM_001321817.2:c.-372G>A | NP_001308746.1:n.-372G>A | |
| NM_002877.6:c.84G>A | NP_002868.1:p.Gln28= | |
| NM_133509.4:c.84G>A | NP_598193.2:p.Gln28= | |
| NM_133510.4:c.84G>A MANE Select | NP_598194.1:p.Gln28= | |
| NM_001321809.2:c.84G>A | NP_001308738.1:p.Gln28= | |
| NM_001321810.2:c.84G>A | NP_001308739.1:p.Gln28= | |
| NM_001321814.2:c.84G>A | NP_001308743.1:p.Gln28= | |
| NM_001321818.2:c.84G>A | NP_001308747.1:p.Gln28= | |
| NM_001321821.2:c.84G>A | NP_001308750.1:p.Gln28= | |
| NM_133509.5:c.84G>A | NP_598193.2:p.Gln28= |