Linked Data
ClinVar Variation Id:
1656250
ClinVar RCV Id:
RCV002168912
dbSNP Id:
rs142659184
ExAC:
X:13776533 C / T
gnomAD v2:
X-13776533-C-T
gnomAD v3:
X-13758414-C-T
gnomAD v4:
X-13758414-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13758414C>T , CM000685.2:g.13758414C>T | GRCh38 |
| NC_000023.10:g.13776533C>T , CM000685.1:g.13776533C>T | GRCh37 |
| NC_000023.9:g.13686454C>T | NCBI36 |
| NG_008872.1:g.28702C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.*1313C>T | ENSP00000369941.2:n.*1313C>T | |
| ENST00000398395.8:c.*1115+624C>T | ENSP00000381432.5:n.*1115+624C>T | |
| ENST00000464463.6:n.1783C>T | ||
| ENST00000490265.6:n.2149C>T | ||
| ENST00000682237.1:c.*1180C>T | ENSP00000507121.1:n.*1180C>T | |
| ENST00000682562.1:c.*3022C>T | ENSP00000507874.1:n.*3022C>T | |
| ENST00000682953.1:c.*2347C>T | ENSP00000507878.1:n.*2347C>T | |
| ENST00000683055.1:c.*935C>T | ENSP00000508191.1:n.*935C>T | |
| ENST00000683284.1:c.*1851C>T | ENSP00000507837.1:n.*1851C>T | |
| ENST00000683427.1:c.*311+624C>T | ENSP00000507290.1:n.*311+624C>T | |
| ENST00000683454.1:n.1634C>T | ||
| ENST00000683637.1:n.2729C>T | ||
| ENST00000683655.1:c.*1834C>T | ENSP00000506770.1:n.*1834C>T | |
| ENST00000683713.1:c.*1851C>T | ENSP00000507797.1:n.*1851C>T | |
| ENST00000684577.1:c.*1317C>T | ENSP00000507871.1:n.*1317C>T | |
| ENST00000340096.11:c.1620C>T MANE Select | ENSP00000344314.6:p.Ala540= | |
| ENST00000340096.10:c.1620C>T | ENSP00000344314.6:p.Ala540= | |
| ENST00000380550.6:c.1500C>T | ENSP00000369923.3:p.Ala500= | |
| ENST00000380567.5:c.1200C>T | ENSP00000369941.1:p.Ala400= | |
| ENST00000398395.7:c.1011+624C>T | ENSP00000381432.4:n.1011+624C>T | |
| ENST00000490265.5:n.2595C>T | ||
| NM_003611.2:c.1620C>T | NP_003602.1:p.Ala540= | |
| XM_005274599.2:c.1641C>T | XP_005274656.1:p.Ala547= | |
| XM_005274602.2:c.1641C>T | XP_005274659.1:p.Ala547= | |
| XM_005274603.2:c.1521C>T | XP_005274660.1:p.Ala507= | |
| XM_005274604.2:c.1500C>T | XP_005274661.1:p.Ala500= | |
| XM_005274606.2:c.1476C>T | XP_005274663.1:p.Ala492= | |
| XM_005274607.3:c.1200C>T | XP_005274664.1:p.Ala400= | |
| XM_011545591.1:c.1641C>T | XP_011543893.1:p.Ala547= | |
| XM_011545592.1:c.1428C>T | XP_011543894.1:p.Ala476= | |
| XM_011545593.1:c.1641C>T | XP_011543895.1:p.Ala547= | |
| XM_011545594.1:c.1299C>T | XP_011543896.1:p.Ala433= | |
| XM_011545595.1:c.1299C>T | XP_011543897.1:p.Ala433= | |
| XM_011545596.1:c.1641C>T | XP_011543898.1:p.Ala547= | |
| XM_011545597.1:c.1200C>T | XP_011543899.1:p.Ala400= | |
| XM_011545598.1:c.345C>T | XP_011543900.1:p.Ala115= | |
| XR_247288.2:n.1980C>T | ||
| NM_001330209.1:c.1500C>T | NP_001317138.1:p.Ala500= | |
| NM_001330210.1:c.1200C>T | NP_001317139.1:p.Ala400= | |
| XM_005274606.4:c.1476C>T | XP_005274663.1:p.Ala492= | |
| XM_011545592.3:c.1428C>T | XP_011543894.1:p.Ala476= | |
| XM_011545594.3:c.1299C>T | XP_011543896.1:p.Ala433= | |
| XM_011545597.2:c.1200C>T | XP_011543899.1:p.Ala400= | |
| XM_017029909.1:c.1200C>T | XP_016885398.1:p.Ala400= | |
| XM_017029911.1:c.678C>T | XP_016885400.1:p.Ala226= | |
| XM_024452468.1:c.345C>T | XP_024308236.1:p.Ala115= | |
| XM_024452469.1:c.345C>T | XP_024308237.1:p.Ala115= | |
| XM_024452470.1:c.345C>T | XP_024308238.1:p.Ala115= | |
| XM_024452471.1:c.345C>T | XP_024308239.1:p.Ala115= | |
| NM_003611.3:c.1620C>T MANE Select | NP_003602.1:p.Ala540= | |
| NM_001330209.2:c.1500C>T | NP_001317138.1:p.Ala500= | |
| NM_001330210.2:c.1200C>T | NP_001317139.1:p.Ala400= |