Linked Data
ClinVar Variation Id:
158952
dbSNP Id:
rs587783807
ExAC:
X:149839958 A / G
gnomAD v2:
X-149839958-A-G
gnomAD v3:
X-150671485-A-G
gnomAD v4:
X-150671485-A-G
ERepo:
CA172597/MONDO:0018947/149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150671485A>G , CM000685.2:g.150671485A>G | GRCh38 |
| NC_000023.10:g.149839958A>G , CM000685.1:g.149839958A>G | GRCh37 |
| NC_000023.9:g.149590616A>G | NCBI36 |
| NG_008199.1:g.107912A>G , LRG_839:g.107912A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684910.1:c.*1235A>G | ENSP00000509844.1:n.*1235A>G | |
| ENST00000685439.1:c.1357A>G | ENSP00000508454.1:p.Ile453Val | |
| ENST00000685944.1:c.1702A>G | ENSP00000509266.1:p.Ile568Val | |
| ENST00000686212.1:n.1304A>G | ||
| ENST00000687215.1:c.*1457A>G | ENSP00000509706.1:n.*1457A>G | |
| ENST00000688152.1:c.*1146A>G | ENSP00000509360.1:n.*1146A>G | |
| ENST00000688403.1:c.958A>G | ENSP00000508944.1:p.Ile320Val | |
| ENST00000689314.1:c.1747A>G | ENSP00000510607.1:p.Ile583Val | |
| ENST00000689694.1:c.1702A>G | ENSP00000508718.1:p.Ile568Val | |
| ENST00000689810.1:c.*1351A>G | ENSP00000510635.1:n.*1351A>G | |
| ENST00000690282.1:c.958A>G | ENSP00000509809.1:p.Ile320Val | |
| ENST00000690351.1:c.*1354A>G | ENSP00000509728.1:n.*1354A>G | |
| ENST00000691232.1:c.1357A>G | ENSP00000509675.1:p.Ile453Val | |
| ENST00000691482.1:n.5665A>G | ||
| ENST00000691686.1:c.1609A>G | ENSP00000509784.1:p.Ile537Val | |
| ENST00000691851.1:c.1111A>G | ENSP00000510106.1:p.Ile371Val | |
| ENST00000692015.1:c.1489A>G | ENSP00000510634.1:p.Ile497Val | |
| ENST00000692638.1:c.*1500A>G | ENSP00000509412.1:n.*1500A>G | |
| ENST00000692852.1:c.1513A>G | ENSP00000510337.1:p.Ile505Val | |
| ENST00000692915.1:c.*1848A>G | ENSP00000508547.1:n.*1848A>G | |
| ENST00000370396.7:c.1702A>G MANE Select | ENSP00000359423.3:p.Ile568Val | |
| ENST00000306167.11:n.1566A>G | ||
| ENST00000370396.6:c.1702A>G | ENSP00000359423.2:p.Ile568Val | |
| NM_000252.2:c.1702A>G , LRG_839t1:c.1702A>G | NP_000243.1:p.Ile568Val | |
| XM_005274687.2:c.1702A>G | XP_005274744.1:p.Ile568Val | |
| XM_011531170.1:c.1765A>G | XP_011529472.1:p.Ile589Val | |
| XM_011531171.1:c.1747A>G | XP_011529473.1:p.Ile583Val | |
| XM_011531172.1:c.1747A>G | XP_011529474.1:p.Ile583Val | |
| XM_011531173.1:c.1702A>G | XP_011529475.1:p.Ile568Val | |
| XM_011531173.2:c.1702A>G | XP_011529475.1:p.Ile568Val | |
| XM_017029547.1:c.1744A>G | XP_016885036.1:p.Ile582Val | |
| XM_017029548.1:c.1747A>G | XP_016885037.1:p.Ile583Val | |
| XM_017029549.1:c.1699A>G | XP_016885038.1:p.Ile567Val | |
| XM_017029550.1:c.1591A>G | XP_016885039.1:p.Ile531Val | |
| XM_017029551.2:c.958A>G | XP_016885040.1:p.Ile320Val | |
| NM_000252.3:c.1702A>G MANE Select | NP_000243.1:p.Ile568Val | |
| NM_001376906.1:c.1699A>G | NP_001363835.1:p.Ile567Val | |
| NM_001376907.1:c.1591A>G | NP_001363836.1:p.Ile531Val | |
| NM_001376908.1:c.1702A>G | NP_001363837.1:p.Ile568Val |