Linked Data
ClinVar Variation Id:
294547
dbSNP Id:
rs201084185
ExAC:
1:196965241 G / A
gnomAD v2:
1-196965241-G-A
gnomAD v3:
1-196996111-G-A
gnomAD v4:
1-196996111-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996111G>A , CM000663.2:g.196996111G>A | GRCh38 |
| NC_000001.10:g.196965241G>A , CM000663.1:g.196965241G>A | GRCh37 |
| NC_000001.9:g.195231864G>A | NCBI36 |
| NG_016365.1:g.23575G>A , LRG_227:g.23575G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.625G>A | ENSP00000514393.1:p.Glu209Lys | |
| ENST00000699467.1:n.949G>A | ||
| ENST00000699468.1:c.-24-3G>A | ENSP00000514394.1:n.-24-3G>A | |
| ENST00000256785.5:c.880G>A MANE Select | ENSP00000256785.4:p.Glu294Lys | |
| ENST00000256785.4:c.880G>A | ENSP00000256785.4:p.Glu294Lys | |
| NM_030787.3:c.880G>A , LRG_227t1:c.880G>A | NP_110414.1:p.Glu294Lys | |
| XM_011510020.1:c.889G>A | XP_011508322.1:p.Glu297Lys | |
| XM_011510020.2:c.889G>A | XP_011508322.1:p.Glu297Lys | |
| NM_030787.4:c.880G>A MANE Select | NP_110414.1:p.Glu294Lys |