Linked Data
ClinVar Variation Id:
436106
dbSNP Id:
rs192285113
ExAC:
X:13771533 C / G
gnomAD v2:
X-13771533-C-G
gnomAD v3:
X-13753414-C-G
gnomAD v4:
X-13753414-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13753414C>G , CM000685.2:g.13753414C>G | GRCh38 |
| NC_000023.10:g.13771533C>G , CM000685.1:g.13771533C>G | GRCh37 |
| NC_000023.9:g.13681454C>G | NCBI36 |
| NG_008872.1:g.23702C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.*795C>G | ENSP00000369941.2:n.*795C>G | |
| ENST00000398395.8:c.*675C>G | ENSP00000381432.5:n.*675C>G | |
| ENST00000464463.6:n.1265C>G | ||
| ENST00000490265.6:n.1631C>G | ||
| ENST00000682237.1:c.*662C>G | ENSP00000507121.1:n.*662C>G | |
| ENST00000682562.1:c.*795C>G | ENSP00000507874.1:n.*795C>G | |
| ENST00000682953.1:c.*1829C>G | ENSP00000507878.1:n.*1829C>G | |
| ENST00000683055.1:c.831-3164C>G | ENSP00000508191.1:n.831-3164C>G | |
| ENST00000683065.1:n.391C>G | ||
| ENST00000683284.1:c.*1333C>G | ENSP00000507837.1:n.*1333C>G | |
| ENST00000683427.1:c.936-3164C>G | ENSP00000507290.1:n.936-3164C>G | |
| ENST00000683454.1:n.1116C>G | ||
| ENST00000683637.1:n.2211C>G | ||
| ENST00000683655.1:c.*1316C>G | ENSP00000506770.1:n.*1316C>G | |
| ENST00000683713.1:c.*1333C>G | ENSP00000507797.1:n.*1333C>G | |
| ENST00000684577.1:c.*795C>G | ENSP00000507871.1:n.*795C>G | |
| ENST00000340096.11:c.1102C>G MANE Select | ENSP00000344314.6:p.Leu368Val | |
| ENST00000340096.10:c.1102C>G | ENSP00000344314.6:p.Leu368Val | |
| ENST00000380550.6:c.982C>G | ENSP00000369923.3:p.Leu328Val | |
| ENST00000380567.5:c.682C>G | ENSP00000369941.1:p.Leu228Val | |
| ENST00000398395.7:c.571C>G | ENSP00000381432.4:p.Leu191Val | |
| ENST00000490265.5:n.2077C>G | ||
| NM_003611.2:c.1102C>G | NP_003602.1:p.Leu368Val | |
| XM_005274599.2:c.1123C>G | XP_005274656.1:p.Leu375Val | |
| XM_005274602.2:c.1123C>G | XP_005274659.1:p.Leu375Val | |
| XM_005274603.2:c.1003C>G | XP_005274660.1:p.Leu335Val | |
| XM_005274604.2:c.982C>G | XP_005274661.1:p.Leu328Val | |
| XM_005274606.2:c.958C>G | XP_005274663.1:p.Leu320Val | |
| XM_005274607.3:c.682C>G | XP_005274664.1:p.Leu228Val | |
| XM_011545591.1:c.1123C>G | XP_011543893.1:p.Leu375Val | |
| XM_011545592.1:c.910C>G | XP_011543894.1:p.Leu304Val | |
| XM_011545593.1:c.1123C>G | XP_011543895.1:p.Leu375Val | |
| XM_011545594.1:c.781C>G | XP_011543896.1:p.Leu261Val | |
| XM_011545595.1:c.781C>G | XP_011543897.1:p.Leu261Val | |
| XM_011545596.1:c.1123C>G | XP_011543898.1:p.Leu375Val | |
| XM_011545597.1:c.682C>G | XP_011543899.1:p.Leu228Val | |
| XM_011545598.1:c.-55+2046C>G | XP_011543900.1:n.-55+2046C>G | |
| XR_247288.2:n.1462C>G | ||
| NM_001330209.1:c.982C>G | NP_001317138.1:p.Leu328Val | |
| NM_001330210.1:c.682C>G | NP_001317139.1:p.Leu228Val | |
| XM_005274606.4:c.958C>G | XP_005274663.1:p.Leu320Val | |
| XM_011545592.3:c.910C>G | XP_011543894.1:p.Leu304Val | |
| XM_011545594.3:c.781C>G | XP_011543896.1:p.Leu261Val | |
| XM_011545597.2:c.682C>G | XP_011543899.1:p.Leu228Val | |
| XM_017029909.1:c.682C>G | XP_016885398.1:p.Leu228Val | |
| XM_017029911.1:c.160C>G | XP_016885400.1:p.Leu54Val | |
| XM_024452468.1:c.-174C>G | XP_024308236.1:n.-174C>G | |
| XM_024452469.1:c.-174C>G | XP_024308237.1:n.-174C>G | |
| XM_024452470.1:c.-174C>G | XP_024308238.1:n.-174C>G | |
| XM_024452471.1:c.-174C>G | XP_024308239.1:n.-174C>G | |
| NM_003611.3:c.1102C>G MANE Select | NP_003602.1:p.Leu368Val | |
| NM_001330209.2:c.982C>G | NP_001317138.1:p.Leu328Val | |
| NM_001330210.2:c.682C>G | NP_001317139.1:p.Leu228Val |