Linked Data
ClinVar Variation Id:
2746997
ClinVar RCV Id:
RCV003596952
MyVariant Identifiers:
chrX:g.2853023T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.2934982T>C , CM000685.2:g.2934982T>C | GRCh38 |
| NC_000023.10:g.2853023T>C , CM000685.1:g.2853023T>C | GRCh37 |
| NC_000023.9:g.2863023T>C | NCBI36 |
| NG_007091.1:g.34289A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000540563.6:c.1620A>G | ENSP00000438198.2:p.Arg540= | |
| ENST00000681963.1:c.1695A>G | ENSP00000507760.1:p.Arg565= | |
| ENST00000682184.1:c.1497A>G | ENSP00000507043.1:p.Arg499= | |
| ENST00000682364.1:c.1059A>G | ENSP00000507604.1:p.Arg353= | |
| ENST00000683191.1:n.1400A>G | ||
| ENST00000683290.1:c.1695A>G | ENSP00000508156.1:p.Arg565= | |
| ENST00000683677.1:c.1608A>G | ENSP00000506786.1:p.Arg536= | |
| ENST00000684077.1:c.1173A>G | ENSP00000506767.1:p.Arg391= | |
| ENST00000684117.1:c.1458A>G | ENSP00000508337.1:p.Arg486= | |
| ENST00000684364.1:c.1608A>G | ENSP00000507304.1:p.Arg536= | |
| ENST00000684738.1:c.1059A>G | ENSP00000507481.1:p.Arg353= | |
| ENST00000381134.9:c.1620A>G MANE Select | ENSP00000370526.3:p.Arg540= | |
| ENST00000545496.6:c.1695A>G | ENSP00000441417.1:p.Arg565= | |
| ENST00000672027.1:c.1695A>G | ENSP00000500220.1:p.Arg565= | |
| ENST00000672097.1:c.1617A>G | ENSP00000500727.1:p.Arg539= | |
| ENST00000672761.1:c.1458A>G | ENSP00000500108.1:p.Arg486= | |
| ENST00000673032.1:c.1458A>G | ENSP00000500778.1:p.Arg486= | |
| ENST00000381134.7:c.1620A>G | ENSP00000370526.3:p.Arg540= | |
| ENST00000540563.5:c.1485A>G | ENSP00000438198.1:p.Arg495= | |
| ENST00000545496.5:c.1695A>G | ENSP00000441417.1:p.Arg565= | |
| NM_000047.2:c.1620A>G | NP_000038.2:p.Arg540= | |
| NM_001282628.1:c.1695A>G | NP_001269557.1:p.Arg565= | |
| NM_001282631.1:c.1485A>G | NP_001269560.1:p.Arg495= | |
| XM_005274518.2:c.1647A>G | XP_005274575.1:p.Arg549= | |
| XM_005274519.3:c.1620A>G | XP_005274576.1:p.Arg540= | |
| XM_005274521.3:c.1458A>G | XP_005274578.1:p.Arg486= | |
| XM_011545519.1:c.1458A>G | XP_011543821.1:p.Arg486= | |
| XM_011545520.1:c.1134A>G | XP_011543822.1:p.Arg378= | |
| XM_011545521.1:c.1059A>G | XP_011543823.1:p.Arg353= | |
| XM_005274519.4:c.1620A>G | XP_005274576.1:p.Arg540= | |
| XM_005274521.4:c.1458A>G | XP_005274578.1:p.Arg486= | |
| XM_017029525.1:c.1695A>G | XP_016885014.1:p.Arg565= | |
| XM_017029526.1:c.1134A>G | XP_016885015.1:p.Arg378= | |
| NM_000047.3:c.1620A>G MANE Select | NP_000038.2:p.Arg540= | |
| NM_001282631.2:c.1458A>G | NP_001269560.2:p.Arg486= | |
| NM_001369079.1:c.1647A>G | NP_001356008.1:p.Arg549= | |
| NM_001369080.1:c.1695A>G | NP_001356009.1:p.Arg565= | |
| NM_001282628.2:c.1695A>G | NP_001269557.1:p.Arg565= |