Linked Data
ClinVar Variation Id:
259098
dbSNP Id:
rs180940027
ExAC:
X:13786819 C / T
gnomAD v2:
X-13786819-C-T
gnomAD v3:
X-13768700-C-T
gnomAD v4:
X-13768700-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13768700C>T , CM000685.2:g.13768700C>T | GRCh38 |
| NC_000023.10:g.13786819C>T , CM000685.1:g.13786819C>T | GRCh37 |
| NC_000023.9:g.13696740C>T | NCBI36 |
| NG_008872.1:g.38988C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.*2622-18C>T | ENSP00000369941.2:n.*2622-18C>T | |
| ENST00000398395.8:c.*2390-18C>T | ENSP00000381432.5:n.*2390-18C>T | |
| ENST00000464463.6:n.4758-18C>T | ||
| ENST00000490265.6:n.3458-18C>T | ||
| ENST00000682237.1:c.*2489-18C>T | ENSP00000507121.1:n.*2489-18C>T | |
| ENST00000682562.1:c.*4220-18C>T | ENSP00000507874.1:n.*4220-18C>T | |
| ENST00000682953.1:c.*3545-18C>T | ENSP00000507878.1:n.*3545-18C>T | |
| ENST00000683055.1:c.*5043C>T | ENSP00000508191.1:n.*5043C>T | |
| ENST00000683284.1:c.*3160-18C>T | ENSP00000507837.1:n.*3160-18C>T | |
| ENST00000683427.1:c.*2355-18C>T | ENSP00000507290.1:n.*2355-18C>T | |
| ENST00000683454.1:n.2943-18C>T | ||
| ENST00000683637.1:n.4038-18C>T | ||
| ENST00000683655.1:c.*3143-18C>T | ENSP00000506770.1:n.*3143-18C>T | |
| ENST00000683713.1:c.*3160-18C>T | ENSP00000507797.1:n.*3160-18C>T | |
| ENST00000684577.1:c.*2515-18C>T | ENSP00000507871.1:n.*2515-18C>T | |
| ENST00000340096.11:c.2929-18C>T MANE Select | ENSP00000344314.6:n.2929-18C>T | |
| ENST00000340096.10:c.2929-18C>T | ENSP00000344314.6:n.2929-18C>T | |
| ENST00000380550.6:c.2809-18C>T | ENSP00000369923.3:n.2809-18C>T | |
| ENST00000380567.5:c.2509-18C>T | ENSP00000369941.1:n.2509-18C>T | |
| ENST00000398395.7:c.*1269-18C>T | ENSP00000381432.4:n.*1269-18C>T | |
| ENST00000464463.5:n.639-18C>T | ||
| ENST00000474705.1:n.321-18C>T | ||
| ENST00000490265.5:n.3904-18C>T | ||
| NM_003611.2:c.2929-18C>T | NP_003602.1:n.2929-18C>T | |
| XM_005274599.2:c.2950-18C>T | XP_005274656.1:n.2950-18C>T | |
| XM_005274602.2:c.2839-18C>T | XP_005274659.1:n.2839-18C>T | |
| XM_005274603.2:c.2830-18C>T | XP_005274660.1:n.2830-18C>T | |
| XM_005274604.2:c.2809-18C>T | XP_005274661.1:n.2809-18C>T | |
| XM_005274606.2:c.2785-18C>T | XP_005274663.1:n.2785-18C>T | |
| XM_005274607.3:c.2509-18C>T | XP_005274664.1:n.2509-18C>T | |
| XM_011545591.1:c.2950-18C>T | XP_011543893.1:n.2950-18C>T | |
| XM_011545592.1:c.2737-18C>T | XP_011543894.1:n.2737-18C>T | |
| XM_011545594.1:c.2608-18C>T | XP_011543896.1:n.2608-18C>T | |
| XM_011545595.1:c.2608-18C>T | XP_011543897.1:n.2608-18C>T | |
| XM_011545597.1:c.2398-18C>T | XP_011543899.1:n.2398-18C>T | |
| XM_011545598.1:c.1654-18C>T | XP_011543900.1:n.1654-18C>T | |
| XR_247288.2:n.3131-18C>T | ||
| NM_001330209.1:c.2809-18C>T | NP_001317138.1:n.2809-18C>T | |
| NM_001330210.1:c.2509-18C>T | NP_001317139.1:n.2509-18C>T | |
| XM_005274606.4:c.2785-18C>T | XP_005274663.1:n.2785-18C>T | |
| XM_011545592.3:c.2737-18C>T | XP_011543894.1:n.2737-18C>T | |
| XM_011545594.3:c.2608-18C>T | XP_011543896.1:n.2608-18C>T | |
| XM_011545597.2:c.2398-18C>T | XP_011543899.1:n.2398-18C>T | |
| XM_017029909.1:c.2509-18C>T | XP_016885398.1:n.2509-18C>T | |
| XM_017029911.1:c.1987-18C>T | XP_016885400.1:n.1987-18C>T | |
| XM_024452468.1:c.1654-18C>T | XP_024308236.1:n.1654-18C>T | |
| XM_024452469.1:c.1654-18C>T | XP_024308237.1:n.1654-18C>T | |
| XM_024452470.1:c.1654-18C>T | XP_024308238.1:n.1654-18C>T | |
| XM_024452471.1:c.1543-18C>T | XP_024308239.1:n.1543-18C>T | |
| NM_003611.3:c.2929-18C>T MANE Select | NP_003602.1:n.2929-18C>T | |
| NM_001330209.2:c.2809-18C>T | NP_001317138.1:n.2809-18C>T | |
| NM_001330210.2:c.2509-18C>T | NP_001317139.1:n.2509-18C>T |