Linked Data
ClinVar Variation Id:
1654147
ClinVar RCV Id:
RCV002166306
dbSNP Id:
rs2147189097
MyVariant Identifiers:
chrX:g.19377648C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359530C>T , CM000685.2:g.19359530C>T | GRCh38 |
| NC_000023.10:g.19377648C>T , CM000685.1:g.19377648C>T | GRCh37 |
| NC_000023.9:g.19287569C>T | NCBI36 |
| NG_016781.1:g.20638C>T | |
| NG_021184.1:g.160732G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.1071C>T | ENSP00000348062.6:p.Ala357= | |
| ENST00000379805.4:c.*742C>T | ENSP00000369133.3:n.*742C>T | |
| ENST00000417819.6:c.1134C>T | ENSP00000404616.2:p.Ala378= | |
| ENST00000423505.6:c.1164C>T | ENSP00000406473.2:p.Ala388= | |
| ENST00000481733.2:n.845C>T | ||
| ENST00000696704.1:c.*382C>T | ENSP00000512823.1:n.*382C>T | |
| ENST00000696705.1:c.*505C>T | ENSP00000512824.1:n.*505C>T | |
| ENST00000422285.7:c.1050C>T MANE Select | ENSP00000394382.2:p.Ala350= | |
| ENST00000379804.1:c.207C>T | ENSP00000369132.1:p.Ala69= | |
| ENST00000379806.9:c.1164C>T | ENSP00000369134.5:p.Ala388= | |
| ENST00000422285.6:c.1050C>T | ENSP00000394382.2:p.Ala350= | |
| ENST00000478795.1:n.489C>T | ||
| ENST00000540249.5:c.957C>T | ENSP00000440761.1:p.Ala319= | |
| ENST00000545074.5:c.1071C>T | ENSP00000438550.1:p.Ala357= | |
| NM_000284.3:c.1050C>T | NP_000275.1:p.Ala350= | |
| NM_001173454.1:c.1164C>T | NP_001166925.1:p.Ala388= | |
| NM_001173455.1:c.1071C>T | NP_001166926.1:p.Ala357= | |
| NM_001173456.1:c.957C>T | NP_001166927.1:p.Ala319= | |
| XM_011545531.1:c.1185C>T | XP_011543833.1:p.Ala395= | |
| XM_011545532.1:c.1092C>T | XP_011543834.1:p.Ala364= | |
| XM_017029574.2:c.1071C>T | XP_016885063.1:p.Ala357= | |
| NM_000284.4:c.1050C>T MANE Select | NP_000275.1:p.Ala350= | |
| NM_001173454.2:c.1164C>T | NP_001166925.1:p.Ala388= | |
| NM_001173455.2:c.1071C>T | NP_001166926.1:p.Ala357= | |
| NM_001173456.2:c.957C>T | NP_001166927.1:p.Ala319= |