Linked Data
ClinVar Variation Id:
918865
ClinVar RCV Id:
RCV001176701
dbSNP Id:
rs1429991069
gnomAD v2:
15-67457635-G-A
gnomAD v4:
15-67165297-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67165297G>A , CM000677.2:g.67165297G>A | GRCh38 |
| NC_000015.9:g.67457635G>A , CM000677.1:g.67457635G>A | GRCh37 |
| NC_000015.8:g.65244689G>A | NCBI36 |
| NG_011990.1:g.104441G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558739.2:c.130G>A | ENSP00000453684.2:p.Glu44Lys | |
| ENST00000559460.6:c.130G>A | ENSP00000453082.2:p.Glu44Lys | |
| ENST00000560424.2:c.445G>A | ENSP00000455540.2:p.Glu149Lys | |
| ENST00000327367.9:c.445G>A MANE Select | ENSP00000332973.4:p.Glu149Lys | |
| ENST00000679624.1:c.130G>A | ENSP00000505445.1:p.Glu44Lys | |
| ENST00000681239.1:c.130G>A | ENSP00000505641.1:p.Glu44Lys | |
| ENST00000327367.8:c.445G>A | ENSP00000332973.4:p.Glu149Lys | |
| ENST00000439724.7:c.313G>A | ENSP00000401133.3:p.Glu105Lys | |
| ENST00000540846.6:c.130G>A | ENSP00000437757.2:p.Glu44Lys | |
| ENST00000558739.1:c.130G>A | ENSP00000453684.1:p.Glu44Lys | |
| ENST00000558894.5:c.130G>A | ENSP00000458060.1:p.Glu44Lys | |
| ENST00000559460.5:c.130G>A | ENSP00000453082.1:p.Glu44Lys | |
| ENST00000559937.1:n.295G>A | ||
| ENST00000560175.5:c.130G>A | ENSP00000455095.1:p.Glu44Lys | |
| NM_001145102.1:c.130G>A | NP_001138574.1:p.Glu44Lys | |
| NM_001145103.1:c.313G>A | NP_001138575.1:p.Glu105Lys | |
| NM_005902.3:c.445G>A | NP_005893.1:p.Glu149Lys | |
| XM_011521559.1:c.400+209G>A | XP_011519861.1:n.400+209G>A | |
| XM_011521560.1:c.298G>A | XP_011519862.1:p.Glu100Lys | |
| XM_011521559.3:c.400+209G>A | XP_011519861.1:n.400+209G>A | |
| NM_005902.4:c.445G>A MANE Select | NP_005893.1:p.Glu149Lys | |
| NM_001145102.2:c.130G>A | NP_001138574.1:p.Glu44Lys | |
| NM_001145103.2:c.313G>A | NP_001138575.1:p.Glu105Lys |