Linked Data
ClinVar Variation Id:
3001207
ClinVar RCV Id:
RCV003852350
MyVariant Identifiers:
chrX:g.153997465T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154769190T>C , CM000685.2:g.154769190T>C | GRCh38 |
| NC_000023.10:g.153997465T>C , CM000685.1:g.153997465T>C | GRCh37 |
| NC_000023.9:g.153650659T>C | NCBI36 |
| NG_009780.1:g.11435T>C , LRG_55:g.11435T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.675T>C | ENSP00000400542.2:p.Asp225= | |
| ENST00000426673.6:c.*178T>C | ENSP00000407253.3:n.*178T>C | |
| ENST00000484317.6:n.580T>C | ||
| ENST00000696575.1:c.795T>C | ENSP00000512730.1:p.Asp265= | |
| ENST00000696576.1:n.897T>C | ||
| ENST00000696577.1:c.795T>C | ENSP00000512731.1:p.Asp265= | |
| ENST00000696578.1:c.795T>C | ENSP00000512732.1:p.Asp265= | |
| ENST00000696579.1:n.897T>C | ||
| ENST00000696580.1:c.708T>C | ENSP00000512733.1:p.Asp236= | |
| ENST00000696581.1:c.*769T>C | ENSP00000512734.1:n.*769T>C | |
| ENST00000696582.1:c.*1T>C | ENSP00000512735.1:n.*1T>C | |
| ENST00000696583.1:c.772-16T>C | ENSP00000512736.1:n.772-16T>C | |
| ENST00000696584.1:n.1319T>C | ||
| ENST00000696585.1:n.1438T>C | ||
| ENST00000696586.1:n.1212T>C | ||
| ENST00000696587.1:c.675T>C | ENSP00000512737.1:p.Asp225= | |
| ENST00000696588.1:c.186T>C | ENSP00000513251.1:p.Asp62= | |
| ENST00000696589.1:n.570T>C | ||
| ENST00000696590.1:n.419T>C | ||
| ENST00000696591.1:n.144T>C | ||
| ENST00000696627.1:c.795T>C | ENSP00000512764.1:p.Asp265= | |
| ENST00000696628.1:c.795T>C | ENSP00000512765.1:p.Asp265= | |
| ENST00000369550.10:c.795T>C MANE Select | ENSP00000358563.5:p.Asp265= | |
| ENST00000369550.9:c.795T>C | ENSP00000358563.5:p.Asp265= | |
| ENST00000412124.5:c.174-1569T>C | ||
| ENST00000413910.5:c.675T>C | ENSP00000400542.1:p.Asp225= | |
| ENST00000426673.5:c.155T>C | ||
| ENST00000452771.5:c.688T>C | ENSP00000407325.1:n.688T>C | |
| ENST00000475966.1:n.284T>C | ||
| ENST00000484317.5:n.433T>C | ||
| ENST00000620277.4:c.795T>C | ENSP00000478387.1:p.Asp265= | |
| NM_001142463.2:c.795T>C | NP_001135935.1:p.Asp265= | |
| NM_001288747.1:c.795T>C | NP_001275676.1:p.Asp265= | |
| NM_001363.4:c.795T>C | NP_001354.1:p.Asp265= | |
| NR_110021.1:n.1496T>C | ||
| NR_110022.1:n.1615T>C | ||
| NR_110023.1:n.1389T>C | ||
| NM_001363.5:c.795T>C MANE Select | NP_001354.1:p.Asp265= | |
| NM_001142463.3:c.795T>C | NP_001135935.1:p.Asp265= | |
| NR_110021.2:n.1374T>C | ||
| NR_110022.2:n.1493T>C | ||
| NR_110023.2:n.1267T>C | ||
| NM_001288747.2:c.795T>C | NP_001275676.1:p.Asp265= |