Linked Data
ClinVar Variation Id:
412873
dbSNP Id:
rs762169661
ExAC:
X:13754767 C / T
gnomAD v2:
X-13754767-C-T
gnomAD v3:
X-13736648-C-T
gnomAD v4:
X-13736648-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13736648C>T , CM000685.2:g.13736648C>T | GRCh38 |
| NC_000023.10:g.13754767C>T , CM000685.1:g.13754767C>T | GRCh37 |
| NC_000023.9:g.13664688C>T | NCBI36 |
| NG_008872.1:g.6936C>T | |
| NG_011555.1:g.2976G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.282C>T | ENSP00000369941.2:p.Phe94= | |
| ENST00000398395.8:c.282C>T | ENSP00000381432.5:p.Phe94= | |
| ENST00000464463.6:n.565C>T | ||
| ENST00000490265.6:n.152-8C>T | ||
| ENST00000682237.1:c.282C>T | ENSP00000507121.1:p.Phe94= | |
| ENST00000682562.1:c.282C>T | ENSP00000507874.1:p.Phe94= | |
| ENST00000682953.1:c.*345C>T | ENSP00000507878.1:n.*345C>T | |
| ENST00000683055.1:c.282C>T | ENSP00000508191.1:p.Phe94= | |
| ENST00000683284.1:c.112-8C>T | ENSP00000507837.1:n.112-8C>T | |
| ENST00000683427.1:c.282C>T | ENSP00000507290.1:p.Phe94= | |
| ENST00000683454.1:n.171C>T | ||
| ENST00000683655.1:c.282C>T | ENSP00000506770.1:p.Phe94= | |
| ENST00000683713.1:c.282C>T | ENSP00000507797.1:p.Phe94= | |
| ENST00000684401.1:n.673C>T | ||
| ENST00000684577.1:c.282C>T | ENSP00000507871.1:p.Phe94= | |
| ENST00000340096.11:c.282C>T MANE Select | ENSP00000344314.6:p.Phe94= | |
| ENST00000340096.10:c.282C>T | ENSP00000344314.6:p.Phe94= | |
| ENST00000380550.6:c.282C>T | ENSP00000369923.3:p.Phe94= | |
| ENST00000380567.5:c.-264C>T | ENSP00000369941.1:n.-264C>T | |
| ENST00000398395.7:c.-253C>T | ENSP00000381432.4:n.-253C>T | |
| ENST00000490265.5:n.593C>T | ||
| NM_003611.2:c.282C>T | NP_003602.1:p.Phe94= | |
| XM_005274599.2:c.303C>T | XP_005274656.1:p.Phe101= | |
| XM_005274602.2:c.303C>T | XP_005274659.1:p.Phe101= | |
| XM_005274603.2:c.303C>T | XP_005274660.1:p.Phe101= | |
| XM_005274604.2:c.282C>T | XP_005274661.1:p.Phe94= | |
| XM_005274606.2:c.138C>T | XP_005274663.1:p.Phe46= | |
| XM_011545591.1:c.303C>T | XP_011543893.1:p.Phe101= | |
| XM_011545592.1:c.98-8C>T | XP_011543894.1:n.98-8C>T | |
| XM_011545593.1:c.303C>T | XP_011543895.1:p.Phe101= | |
| XM_011545594.1:c.-32-8C>T | XP_011543896.1:n.-32-8C>T | |
| XM_011545595.1:c.-32-8C>T | XP_011543897.1:n.-32-8C>T | |
| XM_011545596.1:c.303C>T | XP_011543898.1:p.Phe101= | |
| XM_011545597.1:c.-264C>T | XP_011543899.1:n.-264C>T | |
| XR_247288.2:n.642C>T | ||
| NM_001330209.1:c.282C>T | NP_001317138.1:p.Phe94= | |
| NM_001330210.1:c.-264C>T | NP_001317139.1:n.-264C>T | |
| XM_005274606.4:c.138C>T | XP_005274663.1:p.Phe46= | |
| XM_011545592.3:c.98-8C>T | XP_011543894.1:n.98-8C>T | |
| XM_011545594.3:c.-32-8C>T | XP_011543896.1:n.-32-8C>T | |
| XM_011545597.2:c.-264C>T | XP_011543899.1:n.-264C>T | |
| XM_017029909.1:c.-256-8C>T | XP_016885398.1:n.-256-8C>T | |
| XM_024452468.1:c.-1658C>T | XP_024308236.1:n.-1658C>T | |
| XM_024452469.1:c.-1658C>T | XP_024308237.1:n.-1658C>T | |
| XM_024452470.1:c.-1650-8C>T | XP_024308238.1:n.-1650-8C>T | |
| XM_024452471.1:c.-1658C>T | XP_024308239.1:n.-1658C>T | |
| NM_003611.3:c.282C>T MANE Select | NP_003602.1:p.Phe94= | |
| NM_001330209.2:c.282C>T | NP_001317138.1:p.Phe94= | |
| NM_001330210.2:c.-264C>T | NP_001317139.1:n.-264C>T |