Linked Data
dbSNP Id:
rs1444136628
gnomAD v3:
X-154773126-T-C
gnomAD v4:
X-154773126-T-C
MyVariant Identifiers:
chrX:g.154773126T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154773126T>C , CM000685.2:g.154773126T>C | GRCh38 |
| NC_000023.10:g.154001401T>C , CM000685.1:g.154001401T>C | GRCh37 |
| NC_000023.9:g.153654595T>C | NCBI36 |
| NG_009780.1:g.15371T>C , LRG_55:g.15371T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.917-5T>C | ENSP00000400542.2:n.917-5T>C | |
| ENST00000426673.6:c.*420-5T>C | ENSP00000407253.3:n.*420-5T>C | |
| ENST00000484317.6:n.822-5T>C | ||
| ENST00000696575.1:c.1037-5T>C | ENSP00000512730.1:n.1037-5T>C | |
| ENST00000696577.1:c.1037-5T>C | ENSP00000512731.1:n.1037-5T>C | |
| ENST00000696578.1:c.916-5T>C | ENSP00000512732.1:n.916-5T>C | |
| ENST00000696579.1:n.1139-5T>C | ||
| ENST00000696580.1:c.950-5T>C | ENSP00000512733.1:n.950-5T>C | |
| ENST00000696581.1:c.*1011-5T>C | ENSP00000512734.1:n.*1011-5T>C | |
| ENST00000696582.1:c.*243-5T>C | ENSP00000512735.1:n.*243-5T>C | |
| ENST00000696583.1:c.998-5T>C | ENSP00000512736.1:n.998-5T>C | |
| ENST00000696584.1:n.1561-5T>C | ||
| ENST00000696585.1:n.1680-5T>C | ||
| ENST00000696586.1:n.1454-5T>C | ||
| ENST00000696587.1:c.917-5T>C | ENSP00000512737.1:n.917-5T>C | |
| ENST00000696588.1:c.428-5T>C | ENSP00000513251.1:n.428-5T>C | |
| ENST00000696589.1:n.812-5T>C | ||
| ENST00000696590.1:n.661-5T>C | ||
| ENST00000696591.1:n.386-5T>C | ||
| ENST00000696592.1:n.1911T>C | ||
| ENST00000696627.1:c.1037-5T>C | ENSP00000512764.1:n.1037-5T>C | |
| ENST00000696628.1:c.1037-5T>C | ENSP00000512765.1:n.1037-5T>C | |
| ENST00000369550.10:c.1037-5T>C MANE Select | ENSP00000358563.5:n.1037-5T>C | |
| ENST00000369550.9:c.1037-5T>C | ENSP00000358563.5:n.1037-5T>C | |
| ENST00000412124.5:c.295-5T>C | ||
| ENST00000426673.5:c.397-5T>C | ||
| ENST00000475966.1:n.526-5T>C | ||
| ENST00000620277.4:c.1037-5T>C | ENSP00000478387.1:n.1037-5T>C | |
| NM_001142463.2:c.1037-5T>C | NP_001135935.1:n.1037-5T>C | |
| NM_001288747.1:c.1037-5T>C | NP_001275676.1:n.1037-5T>C | |
| NM_001363.4:c.1037-5T>C | NP_001354.1:n.1037-5T>C | |
| NR_110021.1:n.1738-5T>C | ||
| NR_110022.1:n.1857-5T>C | ||
| NR_110023.1:n.1631-5T>C | ||
| NM_001363.5:c.1037-5T>C MANE Select | NP_001354.1:n.1037-5T>C | |
| NM_001142463.3:c.1037-5T>C | NP_001135935.1:n.1037-5T>C | |
| NR_110021.2:n.1616-5T>C | ||
| NR_110022.2:n.1735-5T>C | ||
| NR_110023.2:n.1509-5T>C | ||
| NM_001288747.2:c.1037-5T>C | NP_001275676.1:n.1037-5T>C |