Linked Data
dbSNP Id:
rs781941481
ExAC:
X:153993762 A / G
gnomAD v2:
X-153993762-A-G
gnomAD v4:
X-154765487-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154765487A>G , CM000685.2:g.154765487A>G | GRCh38 |
| NC_000023.10:g.153993762A>G , CM000685.1:g.153993762A>G | GRCh37 |
| NC_000023.9:g.153646956A>G | NCBI36 |
| NG_009780.1:g.7732A>G , LRG_55:g.7732A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413910.6:c.128A>G | ENSP00000400542.2:p.Lys43Arg | |
| ENST00000426673.6:c.128A>G | ENSP00000407253.3:p.Lys43Arg | |
| ENST00000696575.1:c.128A>G | ENSP00000512730.1:p.Lys43Arg | |
| ENST00000696576.1:n.230A>G | ||
| ENST00000696577.1:c.128A>G | ENSP00000512731.1:p.Lys43Arg | |
| ENST00000696578.1:c.128A>G | ENSP00000512732.1:p.Lys43Arg | |
| ENST00000696579.1:n.230A>G | ||
| ENST00000696580.1:c.85-420A>G | ENSP00000512733.1:n.85-420A>G | |
| ENST00000696581.1:c.*102A>G | ENSP00000512734.1:n.*102A>G | |
| ENST00000696582.1:c.128A>G | ENSP00000512735.1:p.Lys43Arg | |
| ENST00000696583.1:c.128A>G | ENSP00000512736.1:p.Lys43Arg | |
| ENST00000696584.1:n.652A>G | ||
| ENST00000696585.1:n.175A>G | ||
| ENST00000696586.1:n.175A>G | ||
| ENST00000696587.1:c.128A>G | ENSP00000512737.1:p.Lys43Arg | |
| ENST00000696588.1:c.-482A>G | ENSP00000513251.1:n.-482A>G | |
| ENST00000696627.1:c.128A>G | ENSP00000512764.1:p.Lys43Arg | |
| ENST00000696628.1:c.128A>G | ENSP00000512765.1:p.Lys43Arg | |
| ENST00000369550.10:c.128A>G MANE Select | ENSP00000358563.5:p.Lys43Arg | |
| ENST00000369550.9:c.128A>G | ENSP00000358563.5:p.Lys43Arg | |
| ENST00000413910.5:c.128A>G | ENSP00000400542.1:p.Lys43Arg | |
| ENST00000437719.5:c.84A>G | ||
| ENST00000452771.5:c.86A>G | ENSP00000407325.1:p.Lys29Arg | |
| ENST00000473552.1:n.181A>G | ||
| ENST00000620277.4:c.128A>G | ENSP00000478387.1:p.Lys43Arg | |
| NM_001142463.2:c.128A>G | NP_001135935.1:p.Lys43Arg | |
| NM_001288747.1:c.128A>G | NP_001275676.1:p.Lys43Arg | |
| NM_001363.4:c.128A>G | NP_001354.1:p.Lys43Arg | |
| NR_110021.1:n.829A>G | ||
| NR_110022.1:n.352A>G | ||
| NR_110023.1:n.352A>G | ||
| NM_001363.5:c.128A>G MANE Select | NP_001354.1:p.Lys43Arg | |
| NM_001142463.3:c.128A>G | NP_001135935.1:p.Lys43Arg | |
| NR_110021.2:n.707A>G | ||
| NR_110022.2:n.230A>G | ||
| NR_110023.2:n.230A>G | ||
| NM_001288747.2:c.128A>G | NP_001275676.1:p.Lys43Arg |