Linked Data
ClinVar Variation Id:
1600369
ClinVar RCV Id:
RCV002132306
dbSNP Id:
rs369777662
ExAC:
X:153993772 G / A
gnomAD v2:
X-153993772-G-A
gnomAD v3:
X-154765497-G-A
gnomAD v4:
X-154765497-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154765497G>A , CM000685.2:g.154765497G>A | GRCh38 |
| NC_000023.10:g.153993772G>A , CM000685.1:g.153993772G>A | GRCh37 |
| NC_000023.9:g.153646966G>A | NCBI36 |
| NG_009780.1:g.7742G>A , LRG_55:g.7742G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413910.6:c.138G>A | ENSP00000400542.2:p.Lys46= | |
| ENST00000426673.6:c.138G>A | ENSP00000407253.3:p.Lys46= | |
| ENST00000696575.1:c.138G>A | ENSP00000512730.1:p.Lys46= | |
| ENST00000696576.1:n.240G>A | ||
| ENST00000696577.1:c.138G>A | ENSP00000512731.1:p.Lys46= | |
| ENST00000696578.1:c.138G>A | ENSP00000512732.1:p.Lys46= | |
| ENST00000696579.1:n.240G>A | ||
| ENST00000696580.1:c.85-410G>A | ENSP00000512733.1:n.85-410G>A | |
| ENST00000696581.1:c.*112G>A | ENSP00000512734.1:n.*112G>A | |
| ENST00000696582.1:c.138G>A | ENSP00000512735.1:p.Lys46= | |
| ENST00000696583.1:c.138G>A | ENSP00000512736.1:p.Lys46= | |
| ENST00000696584.1:n.662G>A | ||
| ENST00000696585.1:n.185G>A | ||
| ENST00000696586.1:n.185G>A | ||
| ENST00000696587.1:c.138G>A | ENSP00000512737.1:p.Lys46= | |
| ENST00000696588.1:c.-472G>A | ENSP00000513251.1:n.-472G>A | |
| ENST00000696627.1:c.138G>A | ENSP00000512764.1:p.Lys46= | |
| ENST00000696628.1:c.138G>A | ENSP00000512765.1:p.Lys46= | |
| ENST00000369550.10:c.138G>A MANE Select | ENSP00000358563.5:p.Lys46= | |
| ENST00000369550.9:c.138G>A | ENSP00000358563.5:p.Lys46= | |
| ENST00000413910.5:c.138G>A | ENSP00000400542.1:p.Lys46= | |
| ENST00000437719.5:c.94G>A | ||
| ENST00000452771.5:c.96G>A | ENSP00000407325.1:p.Lys32= | |
| ENST00000473552.1:n.191G>A | ||
| ENST00000620277.4:c.138G>A | ENSP00000478387.1:p.Lys46= | |
| NM_001142463.2:c.138G>A | NP_001135935.1:p.Lys46= | |
| NM_001288747.1:c.138G>A | NP_001275676.1:p.Lys46= | |
| NM_001363.4:c.138G>A | NP_001354.1:p.Lys46= | |
| NR_110021.1:n.839G>A | ||
| NR_110022.1:n.362G>A | ||
| NR_110023.1:n.362G>A | ||
| NM_001363.5:c.138G>A MANE Select | NP_001354.1:p.Lys46= | |
| NM_001142463.3:c.138G>A | NP_001135935.1:p.Lys46= | |
| NR_110021.2:n.717G>A | ||
| NR_110022.2:n.240G>A | ||
| NR_110023.2:n.240G>A | ||
| NM_001288747.2:c.138G>A | NP_001275676.1:p.Lys46= |