Linked Data
ClinVar Variation Id:
446754
ClinVar RCV Id:
RCV000516173
dbSNP Id:
rs1555434208
gnomAD v4:
15-98707828-G-A
PubMed:
PMID:22130793
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98707828G>A , CM000677.2:g.98707828G>A | GRCh38 |
| NC_000015.9:g.99251057G>A , CM000677.1:g.99251057G>A | GRCh37 |
| NC_000015.8:g.97068580G>A | NCBI36 |
| NG_009492.1:g.63297G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649865.1:c.361G>A | ENSP00000496919.1:p.Glu121Lys | |
| ENST00000650285.1:c.361G>A MANE Select | ENSP00000497069.1:p.Glu121Lys | |
| ENST00000268035.10:c.361G>A | ENSP00000268035.6:p.Glu121Lys | |
| ENST00000558762.5:c.361G>A | ENSP00000453007.1:p.Glu121Lys | |
| ENST00000559925.5:n.361G>A | ||
| NM_000875.4:c.361G>A | NP_000866.1:p.Glu121Lys | |
| NM_001291858.1:c.361G>A | NP_001278787.1:p.Glu121Lys | |
| XM_011521513.1:c.361G>A | XP_011519815.1:p.Glu121Lys | |
| XM_011521514.1:c.361G>A | XP_011519816.1:p.Glu121Lys | |
| XM_011521515.1:c.361G>A | XP_011519817.1:p.Glu121Lys | |
| XM_017022136.1:c.436G>A | XP_016877625.1:p.Glu146Lys | |
| XM_017022137.1:c.436G>A | XP_016877626.1:p.Glu146Lys | |
| XM_017022138.1:c.436G>A | XP_016877627.1:p.Glu146Lys | |
| XM_017022139.1:c.-3G>A | XP_016877628.1:n.-3G>A | |
| NM_000875.5:c.361G>A MANE Select | NP_000866.1:p.Glu121Lys | |
| NM_001291858.2:c.361G>A | NP_001278787.1:p.Glu121Lys |