Linked Data
ClinVar Variation Id:
960630
dbSNP Id:
rs782631659
ExAC:
X:154004472 A / T
gnomAD v2:
X-154004472-A-T
gnomAD v4:
X-154776197-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154776197A>T , CM000685.2:g.154776197A>T | GRCh38 |
| NC_000023.10:g.154004472A>T , CM000685.1:g.154004472A>T | GRCh37 |
| NC_000023.9:g.153657666A>T | NCBI36 |
| NG_009780.1:g.18442A>T , LRG_55:g.18442A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.*145A>T | ENSP00000400542.2:n.*145A>T | |
| ENST00000426673.6:c.*791A>T | ENSP00000407253.3:n.*791A>T | |
| ENST00000484317.6:n.1623A>T | ||
| ENST00000492372.2:n.287A>T | ||
| ENST00000696575.1:c.1334A>T | ENSP00000512730.1:p.Glu445Val | |
| ENST00000696577.1:c.1349A>T | ENSP00000512731.1:p.Glu450Val | |
| ENST00000696578.1:c.*301A>T | ENSP00000512732.1:n.*301A>T | |
| ENST00000696579.1:n.2364A>T | ||
| ENST00000696580.1:c.1262A>T | ENSP00000512733.1:p.Glu421Val | |
| ENST00000696581.1:c.*1323A>T | ENSP00000512734.1:n.*1323A>T | |
| ENST00000696582.1:c.*555A>T | ENSP00000512735.1:n.*555A>T | |
| ENST00000696583.1:c.1310A>T | ENSP00000512736.1:p.Glu437Val | |
| ENST00000696584.1:n.1873A>T | ||
| ENST00000696585.1:n.1992A>T | ||
| ENST00000696586.1:n.1766A>T | ||
| ENST00000696587.1:c.1229A>T | ENSP00000512737.1:p.Glu410Val | |
| ENST00000696588.1:c.740A>T | ENSP00000513251.1:p.Glu247Val | |
| ENST00000696589.1:n.1124A>T | ||
| ENST00000696590.1:n.2375A>T | ||
| ENST00000696591.1:n.698A>T | ||
| ENST00000696592.1:n.3630A>T | ||
| ENST00000696627.1:c.*175A>T | ENSP00000512764.1:n.*175A>T | |
| ENST00000696628.1:c.1349A>T | ENSP00000512765.1:p.Glu450Val | |
| ENST00000369550.10:c.1349A>T MANE Select | ENSP00000358563.5:p.Glu450Val | |
| ENST00000369550.9:c.1349A>T | ENSP00000358563.5:p.Glu450Val | |
| ENST00000412124.5:c.607A>T | ||
| ENST00000426673.5:c.768A>T | ||
| ENST00000475966.1:n.838A>T | ||
| ENST00000492372.1:n.166A>T | ||
| ENST00000620277.4:c.*575A>T | ENSP00000478387.1:n.*575A>T | |
| NM_001142463.2:c.1334A>T | NP_001135935.1:p.Glu445Val | |
| NM_001288747.1:c.*575A>T | NP_001275676.1:n.*575A>T | |
| NM_001363.4:c.1349A>T | NP_001354.1:p.Glu450Val | |
| NR_110021.1:n.2050A>T | ||
| NR_110022.1:n.2169A>T | ||
| NR_110023.1:n.1943A>T | ||
| NM_001363.5:c.1349A>T MANE Select | NP_001354.1:p.Glu450Val | |
| NM_001142463.3:c.1334A>T | NP_001135935.1:p.Glu445Val | |
| NR_110021.2:n.1928A>T | ||
| NR_110022.2:n.2047A>T | ||
| NR_110023.2:n.1821A>T | ||
| NM_001288747.2:c.*575A>T | NP_001275676.1:n.*575A>T |