Linked Data
ClinVar Variation Id:
839448
ClinVar RCV Id:
RCV001041206
dbSNP Id:
rs781849751
ExAC:
X:153993221 T / G
gnomAD v2:
X-153993221-T-G
gnomAD v3:
X-154764946-T-G
gnomAD v4:
X-154764946-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154764946T>G , CM000685.2:g.154764946T>G | GRCh38 |
| NC_000023.10:g.153993221T>G , CM000685.1:g.153993221T>G | GRCh37 |
| NC_000023.9:g.153646415T>G | NCBI36 |
| NG_009780.1:g.7191T>G , LRG_55:g.7191T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.64T>G | ENSP00000400542.2:p.Leu22Val | |
| ENST00000426673.6:c.64T>G | ENSP00000407253.3:p.Leu22Val | |
| ENST00000696575.1:c.64T>G | ENSP00000512730.1:p.Leu22Val | |
| ENST00000696576.1:n.166T>G | ||
| ENST00000696577.1:c.64T>G | ENSP00000512731.1:p.Leu22Val | |
| ENST00000696578.1:c.64T>G | ENSP00000512732.1:p.Leu22Val | |
| ENST00000696579.1:n.166T>G | ||
| ENST00000696580.1:c.64T>G | ENSP00000512733.1:p.Leu22Val | |
| ENST00000696581.1:c.64T>G | ENSP00000512734.1:p.Leu22Val | |
| ENST00000696582.1:c.64T>G | ENSP00000512735.1:p.Leu22Val | |
| ENST00000696583.1:c.64T>G | ENSP00000512736.1:p.Leu22Val | |
| ENST00000696584.1:n.111T>G | ||
| ENST00000696585.1:n.111T>G | ||
| ENST00000696586.1:n.111T>G | ||
| ENST00000696587.1:c.64T>G | ENSP00000512737.1:p.Leu22Val | |
| ENST00000696588.1:c.-1023T>G | ENSP00000513251.1:n.-1023T>G | |
| ENST00000696627.1:c.64T>G | ENSP00000512764.1:p.Leu22Val | |
| ENST00000696628.1:c.64T>G | ENSP00000512765.1:p.Leu22Val | |
| ENST00000369550.10:c.64T>G MANE Select | ENSP00000358563.5:p.Leu22Val | |
| ENST00000369550.9:c.64T>G | ENSP00000358563.5:p.Leu22Val | |
| ENST00000413910.5:c.64T>G | ENSP00000400542.1:p.Leu22Val | |
| ENST00000437719.5:c.20T>G | ||
| ENST00000452771.5:c.22T>G | ENSP00000407325.1:p.Leu8Val | |
| ENST00000473552.1:n.117T>G | ||
| ENST00000475423.1:n.178T>G | ||
| ENST00000620277.4:c.64T>G | ENSP00000478387.1:p.Leu22Val | |
| NM_001142463.2:c.64T>G | NP_001135935.1:p.Leu22Val | |
| NM_001288747.1:c.64T>G | NP_001275676.1:p.Leu22Val | |
| NM_001363.4:c.64T>G | NP_001354.1:p.Leu22Val | |
| NR_110021.1:n.288T>G | ||
| NR_110022.1:n.288T>G | ||
| NR_110023.1:n.288T>G | ||
| NM_001363.5:c.64T>G MANE Select | NP_001354.1:p.Leu22Val | |
| NM_001142463.3:c.64T>G | NP_001135935.1:p.Leu22Val | |
| NR_110021.2:n.166T>G | ||
| NR_110022.2:n.166T>G | ||
| NR_110023.2:n.166T>G | ||
| NM_001288747.2:c.64T>G | NP_001275676.1:p.Leu22Val |