Linked Data
ClinVar Variation Id:
2694402
ClinVar RCV Id:
RCV003512273
MyVariant Identifiers:
chrX:g.100611837G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101356849G>A , CM000685.2:g.101356849G>A | GRCh38 |
| NC_000023.10:g.100611837G>A , CM000685.1:g.100611837G>A | GRCh37 |
| NC_000023.9:g.100498493G>A | NCBI36 |
| NG_009616.1:g.34376C>T , LRG_128:g.34376C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478995.2:n.1444C>T | ||
| ENST00000488970.2:n.1442C>T | ||
| ENST00000695614.1:c.1284C>T | ENSP00000512053.1:p.Ala428= | |
| ENST00000695615.1:c.1284C>T | ENSP00000512054.1:p.Ala428= | |
| ENST00000695616.1:c.*1129C>T | ENSP00000512055.1:n.*1129C>T | |
| ENST00000695617.1:c.1281C>T | ENSP00000512056.1:p.Ala427= | |
| ENST00000695618.1:c.*1033C>T | ENSP00000512058.1:n.*1033C>T | |
| ENST00000695619.1:c.*994C>T | ENSP00000512059.1:n.*994C>T | |
| ENST00000695620.1:c.*1129C>T | ENSP00000512060.1:n.*1129C>T | |
| ENST00000695621.1:c.1284C>T | ENSP00000512061.1:p.Ala428= | |
| ENST00000695622.1:c.1221C>T | ENSP00000512062.1:p.Ala407= | |
| ENST00000695623.1:c.1278C>T | ENSP00000512063.1:p.Ala426= | |
| ENST00000695624.1:n.589C>T | ||
| ENST00000695625.1:c.1284C>T | ENSP00000512064.1:p.Ala428= | |
| ENST00000695626.1:c.256C>T | ENSP00000512065.1:p.His86Tyr | |
| ENST00000695627.1:c.297C>T | ENSP00000512066.1:p.Ala99= | |
| ENST00000695628.1:c.190+660C>T | ENSP00000512067.1:n.190+660C>T | |
| ENST00000695629.1:c.190+660C>T | ENSP00000512068.1:n.190+660C>T | |
| ENST00000695630.1:c.293C>T | ||
| ENST00000695631.1:c.114+1461C>T | ||
| ENST00000695632.1:n.301C>T | ||
| ENST00000703407.1:c.1038+1525C>T | ENSP00000512057.1:n.1038+1525C>T | |
| ENST00000308731.8:c.1284C>T MANE Select | ENSP00000308176.8:p.Ala428= | |
| ENST00000308731.7:c.1284C>T | ENSP00000308176.7:p.Ala428= | |
| ENST00000372880.5:c.1038+1525C>T | ENSP00000361971.1:n.1038+1525C>T | |
| ENST00000470329.1:n.234C>T | ||
| ENST00000618050.4:c.1284C>T | ENSP00000479125.1:p.Ala428= | |
| ENST00000621635.4:c.1386C>T | ENSP00000483570.1:p.Ala462= | |
| NM_000061.2:c.1284C>T , LRG_128t1:c.1284C>T | NP_000052.1:p.Ala428= | |
| NM_001287344.1:c.1386C>T | NP_001274273.1:p.Ala462= | |
| NM_001287345.1:c.1038+1525C>T | NP_001274274.1:n.1038+1525C>T | |
| NM_000061.3:c.1284C>T MANE Select | NP_000052.1:p.Ala428= | |
| NM_001287344.2:c.1386C>T | NP_001274273.1:p.Ala462= | |
| NM_001287345.2:c.1038+1525C>T | NP_001274274.1:n.1038+1525C>T |