Linked Data
ClinVar Variation Id:
1168875
ClinVar RCV Id:
RCV001519480
dbSNP Id:
rs2239785
ExAC:
22:36661330 G / A
gnomAD v2:
22-36661330-G-A
gnomAD v3:
22-36265284-G-A
gnomAD v4:
22-36265284-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36265284G>A , CM000684.2:g.36265284G>A | GRCh38 |
| NC_000022.10:g.36661330G>A , CM000684.1:g.36661330G>A | GRCh37 |
| NC_000022.9:g.34991276G>A | NCBI36 |
| NG_023228.1:g.17214G>A , LRG_169:g.17214G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000427990.6:c.448G>A | ENSP00000391302.2:p.Glu150Lys | |
| ENST00000433768.6:c.*210G>A | ENSP00000392514.1:n.*210G>A | |
| ENST00000438034.6:c.535G>A | ENSP00000404525.2:p.Glu179Lys | |
| ENST00000397278.8:c.448G>A MANE Select | ENSP00000380448.4:p.Glu150Lys | |
| ENST00000319136.8:c.496G>A | ENSP00000317674.4:p.Glu166Lys | |
| ENST00000397278.7:c.448G>A | ENSP00000380448.3:p.Glu150Lys | |
| ENST00000397279.8:c.448G>A | ENSP00000380449.4:p.Glu150Lys | |
| ENST00000422706.5:c.448G>A | ENSP00000411507.1:p.Glu150Lys | |
| ENST00000426053.5:c.394G>A | ENSP00000388477.1:p.Glu132Lys | |
| ENST00000427990.5:c.448G>A | ENSP00000391302.1:p.Glu150Lys | |
| NM_001136540.1:c.448G>A | NP_001130012.1:p.Glu150Lys | |
| NM_001136541.1:c.394G>A | NP_001130013.1:p.Glu132Lys | |
| NM_003661.3:c.448G>A | NP_003652.2:p.Glu150Lys | |
| NM_145343.2:c.496G>A , LRG_169t1:c.496G>A | NP_663318.1:p.Glu166Lys | |
| XM_005261796.2:c.394G>A | XP_005261853.1:p.Glu132Lys | |
| XM_011530478.1:c.85G>A | XP_011528780.1:p.Glu29Lys | |
| NM_001362927.1:c.394G>A | NP_001349856.1:p.Glu132Lys | |
| XM_011530478.2:c.85G>A | XP_011528780.1:p.Glu29Lys | |
| NM_001362927.2:c.394G>A | NP_001349856.1:p.Glu132Lys | |
| NM_003661.4:c.448G>A MANE Select | NP_003652.2:p.Glu150Lys | |
| NM_001136540.2:c.448G>A | NP_001130012.1:p.Glu150Lys | |
| NM_001136541.2:c.394G>A | NP_001130013.1:p.Glu132Lys | |
| NM_145343.3:c.496G>A | NP_663318.1:p.Glu166Lys |