Linked Data
dbSNP Id:
rs1028393818
gnomAD v4:
X-154773204-C-T
MyVariant Identifiers:
chrX:g.154001479C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154773204C>T , CM000685.2:g.154773204C>T | GRCh38 |
| NC_000023.10:g.154001479C>T , CM000685.1:g.154001479C>T | GRCh37 |
| NC_000023.9:g.153654673C>T | NCBI36 |
| NG_009780.1:g.15449C>T , LRG_55:g.15449C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.990C>T | ENSP00000400542.2:p.Ile330= | |
| ENST00000426673.6:c.*493C>T | ENSP00000407253.3:n.*493C>T | |
| ENST00000484317.6:n.895C>T | ||
| ENST00000696575.1:c.1110C>T | ENSP00000512730.1:p.Ile370= | |
| ENST00000696577.1:c.1110C>T | ENSP00000512731.1:p.Ile370= | |
| ENST00000696578.1:c.*62C>T | ENSP00000512732.1:n.*62C>T | |
| ENST00000696579.1:n.1212C>T | ||
| ENST00000696580.1:c.1023C>T | ENSP00000512733.1:p.Ile341= | |
| ENST00000696581.1:c.*1084C>T | ENSP00000512734.1:n.*1084C>T | |
| ENST00000696582.1:c.*316C>T | ENSP00000512735.1:n.*316C>T | |
| ENST00000696583.1:c.1071C>T | ENSP00000512736.1:p.Ile357= | |
| ENST00000696584.1:n.1634C>T | ||
| ENST00000696585.1:n.1753C>T | ||
| ENST00000696586.1:n.1527C>T | ||
| ENST00000696587.1:c.990C>T | ENSP00000512737.1:p.Ile330= | |
| ENST00000696588.1:c.501C>T | ENSP00000513251.1:p.Ile167= | |
| ENST00000696589.1:n.885C>T | ||
| ENST00000696590.1:n.734C>T | ||
| ENST00000696591.1:n.459C>T | ||
| ENST00000696592.1:n.1989C>T | ||
| ENST00000696627.1:c.1110C>T | ENSP00000512764.1:p.Ile370= | |
| ENST00000696628.1:c.1110C>T | ENSP00000512765.1:p.Ile370= | |
| ENST00000369550.10:c.1110C>T MANE Select | ENSP00000358563.5:p.Ile370= | |
| ENST00000369550.9:c.1110C>T | ENSP00000358563.5:p.Ile370= | |
| ENST00000412124.5:c.368C>T | ||
| ENST00000426673.5:c.470C>T | ||
| ENST00000475966.1:n.599C>T | ||
| ENST00000481062.1:n.61C>T | ||
| ENST00000620277.4:c.1110C>T | ENSP00000478387.1:p.Ile370= | |
| NM_001142463.2:c.1110C>T | NP_001135935.1:p.Ile370= | |
| NM_001288747.1:c.1110C>T | NP_001275676.1:p.Ile370= | |
| NM_001363.4:c.1110C>T | NP_001354.1:p.Ile370= | |
| NR_110021.1:n.1811C>T | ||
| NR_110022.1:n.1930C>T | ||
| NR_110023.1:n.1704C>T | ||
| NM_001363.5:c.1110C>T MANE Select | NP_001354.1:p.Ile370= | |
| NM_001142463.3:c.1110C>T | NP_001135935.1:p.Ile370= | |
| NR_110021.2:n.1689C>T | ||
| NR_110022.2:n.1808C>T | ||
| NR_110023.2:n.1582C>T | ||
| NM_001288747.2:c.1110C>T | NP_001275676.1:p.Ile370= |