Linked Data
ClinVar Variation Id:
2189274
ClinVar RCV Id:
RCV002607233
dbSNP Id:
rs2064620803
gnomAD v3:
X-41520450-T-C
gnomAD v4:
X-41520450-T-C
MyVariant Identifiers:
chrX:g.41379703T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41520450T>C , CM000685.2:g.41520450T>C | GRCh38 |
| NC_000023.10:g.41379703T>C , CM000685.1:g.41379703T>C | GRCh37 |
| NC_000023.9:g.41264647T>C | NCBI36 |
| NG_016754.1:g.407585A>G | |
| NG_016754.2:g.407585A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378154.3:c.2700A>G | ENSP00000367396.2:p.Pro900= | |
| ENST00000378158.6:c.2697A>G | ENSP00000367400.2:p.Pro899= | |
| ENST00000378163.7:c.2751A>G MANE Select | ENSP00000367405.1:p.Pro917= | |
| ENST00000378166.9:c.2649A>G | ENSP00000367408.5:p.Pro883= | |
| ENST00000378168.8:c.2754A>G | ENSP00000367410.4:p.Pro918= | |
| ENST00000378179.9:c.1371A>G | ENSP00000367421.4:p.Pro457= | |
| ENST00000421587.8:c.2682A>G | ENSP00000400526.4:p.Pro894= | |
| ENST00000442742.7:c.2613A>G | ENSP00000398007.3:p.Pro871= | |
| ENST00000642499.1:n.1530A>G | ||
| ENST00000642641.1:n.910A>G | ||
| ENST00000643733.1:c.550A>G | ||
| ENST00000644219.1:c.2733A>G | ENSP00000495357.1:p.Pro911= | |
| ENST00000644347.1:c.2664A>G | ENSP00000494183.1:p.Pro888= | |
| ENST00000645566.1:c.2736A>G | ENSP00000494788.1:p.Pro912= | |
| ENST00000645937.2:n.2982A>G | ||
| ENST00000645986.2:c.2838A>G | ENSP00000494409.2:p.Pro946= | |
| ENST00000646087.2:c.2073A>G | ENSP00000495510.2:p.Pro691= | |
| ENST00000646120.2:c.2667A>G | ENSP00000495291.2:p.Pro889= | |
| ENST00000675354.1:c.2685A>G | ENSP00000502315.1:p.Pro895= | |
| ENST00000378158.5:c.2700A>G | ENSP00000367400.1:p.Pro900= | |
| ENST00000378163.5:c.2751A>G | ENSP00000367405.1:p.Pro917= | |
| ENST00000378166.8:c.2736A>G | ENSP00000367408.4:p.Pro912= | |
| ENST00000378168.6:c.1116A>G | ENSP00000367410.2:p.Pro372= | |
| ENST00000378179.7:c.1527A>G | ENSP00000367421.3:p.Pro509= | |
| ENST00000421587.6:c.2664A>G | ENSP00000400526.2:p.Pro888= | |
| ENST00000442742.6:c.2667A>G | ENSP00000398007.2:p.Pro889= | |
| NM_001126054.2:c.2667A>G | NP_001119526.1:p.Pro889= | |
| NM_001126055.2:c.2664A>G | NP_001119527.1:p.Pro888= | |
| NM_003688.3:c.2736A>G | NP_003679.2:p.Pro912= | |
| XM_005272686.3:c.2733A>G | XP_005272743.1:p.Pro911= | |
| XM_006724566.2:c.2628A>G | XP_006724629.1:p.Pro876= | |
| XM_011543993.1:c.2751A>G | XP_011542295.1:p.Pro917= | |
| XM_011543994.1:c.2715A>G | XP_011542296.1:p.Pro905= | |
| XM_011543995.1:c.2682A>G | XP_011542297.1:p.Pro894= | |
| XM_011543996.1:c.2646A>G | XP_011542298.1:p.Pro882= | |
| XM_011543997.1:c.2178A>G | XP_011542299.1:p.Pro726= | |
| XM_005272686.4:c.2733A>G | XP_005272743.1:p.Pro911= | |
| XM_006724566.3:c.2628A>G | XP_006724629.1:p.Pro876= | |
| XM_011543993.2:c.2751A>G | XP_011542295.1:p.Pro917= | |
| XM_011543994.2:c.2715A>G | XP_011542296.1:p.Pro905= | |
| XM_011543995.2:c.2682A>G | XP_011542297.1:p.Pro894= | |
| XM_011543996.2:c.2646A>G | XP_011542298.1:p.Pro882= | |
| XM_011543997.3:c.2178A>G | XP_011542299.1:p.Pro726= | |
| XM_024452473.1:c.2073A>G | XP_024308241.1:p.Pro691= | |
| NM_001367721.1:c.2751A>G MANE Select | NP_001354650.1:p.Pro917= |