Linked Data
ClinVar Variation Id:
193661
dbSNP Id:
rs199902986
ExAC:
X:13769366 A / G
gnomAD v2:
X-13769366-A-G
gnomAD v3:
X-13751247-A-G
gnomAD v4:
X-13751247-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13751247A>G , CM000685.2:g.13751247A>G | GRCh38 |
| NC_000023.10:g.13769366A>G , CM000685.1:g.13769366A>G | GRCh37 |
| NC_000023.9:g.13679287A>G | NCBI36 |
| NG_008872.1:g.21535A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.*629-2A>G | ENSP00000369941.2:n.*629-2A>G | |
| ENST00000398395.8:c.*628+1714A>G | ENSP00000381432.5:n.*628+1714A>G | |
| ENST00000464463.6:n.1218+1714A>G | ||
| ENST00000490265.6:n.801-2A>G | ||
| ENST00000682237.1:c.936-2A>G | ENSP00000507121.1:n.936-2A>G | |
| ENST00000682562.1:c.*629-2A>G | ENSP00000507874.1:n.*629-2A>G | |
| ENST00000682953.1:c.*999-2A>G | ENSP00000507878.1:n.*999-2A>G | |
| ENST00000683055.1:c.830+1714A>G | ENSP00000508191.1:n.830+1714A>G | |
| ENST00000683065.1:n.344+1714A>G | ||
| ENST00000683284.1:c.*503-2A>G | ENSP00000507837.1:n.*503-2A>G | |
| ENST00000683427.1:c.935+1714A>G | ENSP00000507290.1:n.935+1714A>G | |
| ENST00000683454.1:n.950-2A>G | ||
| ENST00000683637.1:n.1381-2A>G | ||
| ENST00000683655.1:c.*486-2A>G | ENSP00000506770.1:n.*486-2A>G | |
| ENST00000683713.1:c.*503-2A>G | ENSP00000507797.1:n.*503-2A>G | |
| ENST00000684577.1:c.*629-2A>G | ENSP00000507871.1:n.*629-2A>G | |
| ENST00000340096.11:c.936-2A>G MANE Select | ENSP00000344314.6:n.936-2A>G | |
| ENST00000340096.10:c.936-2A>G | ENSP00000344314.6:n.936-2A>G | |
| ENST00000380550.6:c.935+1714A>G | ENSP00000369923.3:n.935+1714A>G | |
| ENST00000380567.5:c.516-2A>G | ENSP00000369941.1:n.516-2A>G | |
| ENST00000398395.7:c.524+1714A>G | ENSP00000381432.4:n.524+1714A>G | |
| ENST00000490265.5:n.1247-2A>G | ||
| NM_003611.2:c.936-2A>G | NP_003602.1:n.936-2A>G | |
| XM_005274599.2:c.957-2A>G | XP_005274656.1:n.957-2A>G | |
| XM_005274602.2:c.957-2A>G | XP_005274659.1:n.957-2A>G | |
| XM_005274603.2:c.956+1714A>G | XP_005274660.1:n.956+1714A>G | |
| XM_005274604.2:c.935+1714A>G | XP_005274661.1:n.935+1714A>G | |
| XM_005274606.2:c.792-2A>G | XP_005274663.1:n.792-2A>G | |
| XM_005274607.3:c.516-2A>G | XP_005274664.1:n.516-2A>G | |
| XM_011545591.1:c.957-2A>G | XP_011543893.1:n.957-2A>G | |
| XM_011545592.1:c.744-2A>G | XP_011543894.1:n.744-2A>G | |
| XM_011545593.1:c.957-2A>G | XP_011543895.1:n.957-2A>G | |
| XM_011545594.1:c.615-2A>G | XP_011543896.1:n.615-2A>G | |
| XM_011545595.1:c.615-2A>G | XP_011543897.1:n.615-2A>G | |
| XM_011545596.1:c.957-2A>G | XP_011543898.1:n.957-2A>G | |
| XM_011545597.1:c.516-2A>G | XP_011543899.1:n.516-2A>G | |
| XR_247288.2:n.1296-2A>G | ||
| NM_001330209.1:c.935+1714A>G | NP_001317138.1:n.935+1714A>G | |
| NM_001330210.1:c.516-2A>G | NP_001317139.1:n.516-2A>G | |
| XM_005274606.4:c.792-2A>G | XP_005274663.1:n.792-2A>G | |
| XM_011545592.3:c.744-2A>G | XP_011543894.1:n.744-2A>G | |
| XM_011545594.3:c.615-2A>G | XP_011543896.1:n.615-2A>G | |
| XM_011545597.2:c.516-2A>G | XP_011543899.1:n.516-2A>G | |
| XM_017029909.1:c.516-2A>G | XP_016885398.1:n.516-2A>G | |
| XM_024452468.1:c.-1004-2A>G | XP_024308236.1:n.-1004-2A>G | |
| XM_024452469.1:c.-1004-2A>G | XP_024308237.1:n.-1004-2A>G | |
| XM_024452470.1:c.-1004-2A>G | XP_024308238.1:n.-1004-2A>G | |
| XM_024452471.1:c.-1004-2A>G | XP_024308239.1:n.-1004-2A>G | |
| NM_003611.3:c.936-2A>G MANE Select | NP_003602.1:n.936-2A>G | |
| NM_001330209.2:c.935+1714A>G | NP_001317138.1:n.935+1714A>G | |
| NM_001330210.2:c.516-2A>G | NP_001317139.1:n.516-2A>G |