Linked Data
ClinVar Variation Id:
2868972
ClinVar RCV Id:
RCV003763458
gnomAD v4:
X-2934967-C-T
MyVariant Identifiers:
chrX:g.2853008C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.2934967C>T , CM000685.2:g.2934967C>T | GRCh38 |
| NC_000023.10:g.2853008C>T , CM000685.1:g.2853008C>T | GRCh37 |
| NC_000023.9:g.2863008C>T | NCBI36 |
| NG_007091.1:g.34304G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000540563.6:c.1635G>A | ENSP00000438198.2:p.Val545= | |
| ENST00000681963.1:c.1710G>A | ENSP00000507760.1:p.Val570= | |
| ENST00000682184.1:c.1512G>A | ENSP00000507043.1:p.Val504= | |
| ENST00000682364.1:c.1074G>A | ENSP00000507604.1:p.Val358= | |
| ENST00000683191.1:n.1415G>A | ||
| ENST00000683290.1:c.1710G>A | ENSP00000508156.1:p.Val570= | |
| ENST00000683677.1:c.1623G>A | ENSP00000506786.1:p.Val541= | |
| ENST00000684077.1:c.1188G>A | ENSP00000506767.1:p.Val396= | |
| ENST00000684117.1:c.1473G>A | ENSP00000508337.1:p.Val491= | |
| ENST00000684364.1:c.1623G>A | ENSP00000507304.1:p.Val541= | |
| ENST00000684738.1:c.1074G>A | ENSP00000507481.1:p.Val358= | |
| ENST00000381134.9:c.1635G>A MANE Select | ENSP00000370526.3:p.Val545= | |
| ENST00000545496.6:c.1710G>A | ENSP00000441417.1:p.Val570= | |
| ENST00000672027.1:c.1710G>A | ENSP00000500220.1:p.Val570= | |
| ENST00000672097.1:c.1632G>A | ENSP00000500727.1:p.Val544= | |
| ENST00000672761.1:c.1473G>A | ENSP00000500108.1:p.Val491= | |
| ENST00000673032.1:c.1473G>A | ENSP00000500778.1:p.Val491= | |
| ENST00000381134.7:c.1635G>A | ENSP00000370526.3:p.Val545= | |
| ENST00000540563.5:c.1500G>A | ENSP00000438198.1:p.Val500= | |
| ENST00000545496.5:c.1710G>A | ENSP00000441417.1:p.Val570= | |
| NM_000047.2:c.1635G>A | NP_000038.2:p.Val545= | |
| NM_001282628.1:c.1710G>A | NP_001269557.1:p.Val570= | |
| NM_001282631.1:c.1500G>A | NP_001269560.1:p.Val500= | |
| XM_005274518.2:c.1662G>A | XP_005274575.1:p.Val554= | |
| XM_005274519.3:c.1635G>A | XP_005274576.1:p.Val545= | |
| XM_005274521.3:c.1473G>A | XP_005274578.1:p.Val491= | |
| XM_011545519.1:c.1473G>A | XP_011543821.1:p.Val491= | |
| XM_011545520.1:c.1149G>A | XP_011543822.1:p.Val383= | |
| XM_011545521.1:c.1074G>A | XP_011543823.1:p.Val358= | |
| XM_005274519.4:c.1635G>A | XP_005274576.1:p.Val545= | |
| XM_005274521.4:c.1473G>A | XP_005274578.1:p.Val491= | |
| XM_017029525.1:c.1710G>A | XP_016885014.1:p.Val570= | |
| XM_017029526.1:c.1149G>A | XP_016885015.1:p.Val383= | |
| NM_000047.3:c.1635G>A MANE Select | NP_000038.2:p.Val545= | |
| NM_001282631.2:c.1473G>A | NP_001269560.2:p.Val491= | |
| NM_001369079.1:c.1662G>A | NP_001356008.1:p.Val554= | |
| NM_001369080.1:c.1710G>A | NP_001356009.1:p.Val570= | |
| NM_001282628.2:c.1710G>A | NP_001269557.1:p.Val570= |