Linked Data
ClinVar Variation Id:
1692638
ClinVar RCV Id:
RCV002258595
dbSNP Id:
rs2148509194
gnomAD v4:
X-154764952-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154764952G>A , CM000685.2:g.154764952G>A | GRCh38 |
| NC_000023.10:g.153993227G>A , CM000685.1:g.153993227G>A | GRCh37 |
| NC_000023.9:g.153646421G>A | NCBI36 |
| NG_009780.1:g.7197G>A , LRG_55:g.7197G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.70G>A | ENSP00000400542.2:p.Glu24Lys | |
| ENST00000426673.6:c.70G>A | ENSP00000407253.3:p.Glu24Lys | |
| ENST00000696575.1:c.70G>A | ENSP00000512730.1:p.Glu24Lys | |
| ENST00000696576.1:n.172G>A | ||
| ENST00000696577.1:c.70G>A | ENSP00000512731.1:p.Glu24Lys | |
| ENST00000696578.1:c.70G>A | ENSP00000512732.1:p.Glu24Lys | |
| ENST00000696579.1:n.172G>A | ||
| ENST00000696580.1:c.70G>A | ENSP00000512733.1:p.Glu24Lys | |
| ENST00000696581.1:c.70G>A | ENSP00000512734.1:p.Glu24Lys | |
| ENST00000696582.1:c.70G>A | ENSP00000512735.1:p.Glu24Lys | |
| ENST00000696583.1:c.70G>A | ENSP00000512736.1:p.Glu24Lys | |
| ENST00000696584.1:n.117G>A | ||
| ENST00000696585.1:n.117G>A | ||
| ENST00000696586.1:n.117G>A | ||
| ENST00000696587.1:c.70G>A | ENSP00000512737.1:p.Glu24Lys | |
| ENST00000696588.1:c.-1017G>A | ENSP00000513251.1:n.-1017G>A | |
| ENST00000696627.1:c.70G>A | ENSP00000512764.1:p.Glu24Lys | |
| ENST00000696628.1:c.70G>A | ENSP00000512765.1:p.Glu24Lys | |
| ENST00000369550.10:c.70G>A MANE Select | ENSP00000358563.5:p.Glu24Lys | |
| ENST00000369550.9:c.70G>A | ENSP00000358563.5:p.Glu24Lys | |
| ENST00000413910.5:c.70G>A | ENSP00000400542.1:p.Glu24Lys | |
| ENST00000437719.5:c.26G>A | ||
| ENST00000452771.5:c.28G>A | ENSP00000407325.1:p.Glu10Lys | |
| ENST00000473552.1:n.123G>A | ||
| ENST00000475423.1:n.184G>A | ||
| ENST00000620277.4:c.70G>A | ENSP00000478387.1:p.Glu24Lys | |
| NM_001142463.2:c.70G>A | NP_001135935.1:p.Glu24Lys | |
| NM_001288747.1:c.70G>A | NP_001275676.1:p.Glu24Lys | |
| NM_001363.4:c.70G>A | NP_001354.1:p.Glu24Lys | |
| NR_110021.1:n.294G>A | ||
| NR_110022.1:n.294G>A | ||
| NR_110023.1:n.294G>A | ||
| NM_001363.5:c.70G>A MANE Select | NP_001354.1:p.Glu24Lys | |
| NM_001142463.3:c.70G>A | NP_001135935.1:p.Glu24Lys | |
| NR_110021.2:n.172G>A | ||
| NR_110022.2:n.172G>A | ||
| NR_110023.2:n.172G>A | ||
| NM_001288747.2:c.70G>A | NP_001275676.1:p.Glu24Lys |