Linked Data
ClinVar Variation Id:
317206
dbSNP Id:
rs34749737
ExAC:
15:80450459 A / G
gnomAD v2:
15-80450459-A-G
gnomAD v3:
15-80158117-A-G
gnomAD v4:
15-80158117-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80158117A>G , CM000677.2:g.80158117A>G | GRCh38 |
| NC_000015.9:g.80450459A>G , CM000677.1:g.80450459A>G | GRCh37 |
| NC_000015.8:g.78237514A>G | NCBI36 |
| NG_012833.1:g.10119A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.139A>G | ENSP00000507680.1:p.Lys47Glu | |
| ENST00000682012.1:n.214A>G | ||
| ENST00000683593.1:n.16A>G | ||
| ENST00000684363.1:c.139A>G | ENSP00000507314.1:p.Lys47Glu | |
| ENST00000684569.1:n.184A>G | ||
| ENST00000561421.6:c.139A>G MANE Select | ENSP00000453347.2:p.Lys47Glu | |
| ENST00000646551.1:n.1626A>G | ||
| ENST00000261755.9:c.139A>G | ENSP00000261755.5:p.Lys47Glu | |
| ENST00000407106.5:c.139A>G | ENSP00000385080.1:p.Lys47Glu | |
| ENST00000537726.5:n.221A>G | ||
| ENST00000539156.5:c.-72A>G | ENSP00000454271.1:n.-72A>G | |
| ENST00000558022.5:c.139A>G | ENSP00000453152.1:p.Lys47Glu | |
| ENST00000558767.5:n.400A>G | ||
| ENST00000561369.1:n.219A>G | ||
| ENST00000561421.5:c.139A>G | ENSP00000453347.1:p.Lys47Glu | |
| NM_000137.2:c.139A>G | NP_000128.1:p.Lys47Glu | |
| XM_024449872.1:c.139A>G | XP_024305640.1:p.Lys47Glu | |
| NM_000137.4:c.139A>G MANE Select | NP_000128.1:p.Lys47Glu | |
| NM_001374377.1:c.139A>G | NP_001361306.1:p.Lys47Glu | |
| NM_001374380.1:c.139A>G | NP_001361309.1:p.Lys47Glu |