Linked Data
ClinVar Variation Id:
1354994
dbSNP Id:
rs1006144968
gnomAD v2:
X-13754593-C-G
gnomAD v3:
X-13736474-C-G
gnomAD v4:
X-13736474-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13736474C>G , CM000685.2:g.13736474C>G | GRCh38 |
| NC_000023.10:g.13754593C>G , CM000685.1:g.13754593C>G | GRCh37 |
| NC_000023.9:g.13664514C>G | NCBI36 |
| NG_008872.1:g.6762C>G | |
| NG_011555.1:g.3150G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.112-4C>G | ENSP00000369941.2:n.112-4C>G | |
| ENST00000398395.8:c.112-4C>G | ENSP00000381432.5:n.112-4C>G | |
| ENST00000464463.6:n.395-4C>G | ||
| ENST00000485052.6:n.605-4C>G | ||
| ENST00000490265.6:n.84-4C>G | ||
| ENST00000682237.1:c.112-4C>G | ENSP00000507121.1:n.112-4C>G | |
| ENST00000682562.1:c.112-4C>G | ENSP00000507874.1:n.112-4C>G | |
| ENST00000682953.1:c.*175-4C>G | ENSP00000507878.1:n.*175-4C>G | |
| ENST00000683055.1:c.112-4C>G | ENSP00000508191.1:n.112-4C>G | |
| ENST00000683284.1:c.112-182C>G | ENSP00000507837.1:n.112-182C>G | |
| ENST00000683427.1:c.112-4C>G | ENSP00000507290.1:n.112-4C>G | |
| ENST00000683655.1:c.112-4C>G | ENSP00000506770.1:n.112-4C>G | |
| ENST00000683713.1:c.112-4C>G | ENSP00000507797.1:n.112-4C>G | |
| ENST00000684401.1:n.499C>G | ||
| ENST00000684577.1:c.112-4C>G | ENSP00000507871.1:n.112-4C>G | |
| ENST00000340096.11:c.112-4C>G MANE Select | ENSP00000344314.6:n.112-4C>G | |
| ENST00000340096.10:c.112-4C>G | ENSP00000344314.6:n.112-4C>G | |
| ENST00000380550.6:c.112-4C>G | ENSP00000369923.3:n.112-4C>G | |
| ENST00000380567.5:c.-434-4C>G | ENSP00000369941.1:n.-434-4C>G | |
| ENST00000398395.7:c.-423-4C>G | ENSP00000381432.4:n.-423-4C>G | |
| ENST00000485052.5:n.616-4C>G | ||
| ENST00000490265.5:n.423-4C>G | ||
| NM_003611.2:c.112-4C>G | NP_003602.1:n.112-4C>G | |
| XM_005274599.2:c.133-4C>G | XP_005274656.1:n.133-4C>G | |
| XM_005274602.2:c.133-4C>G | XP_005274659.1:n.133-4C>G | |
| XM_005274603.2:c.133-4C>G | XP_005274660.1:n.133-4C>G | |
| XM_005274604.2:c.112-4C>G | XP_005274661.1:n.112-4C>G | |
| XM_005274606.2:c.-33-4C>G | XP_005274663.1:n.-33-4C>G | |
| XM_011545591.1:c.133-4C>G | XP_011543893.1:n.133-4C>G | |
| XM_011545592.1:c.97+178C>G | XP_011543894.1:n.97+178C>G | |
| XM_011545593.1:c.133-4C>G | XP_011543895.1:n.133-4C>G | |
| XM_011545594.1:c.-32-182C>G | XP_011543896.1:n.-32-182C>G | |
| XM_011545595.1:c.-32-182C>G | XP_011543897.1:n.-32-182C>G | |
| XM_011545596.1:c.133-4C>G | XP_011543898.1:n.133-4C>G | |
| XM_011545597.1:c.-434-4C>G | XP_011543899.1:n.-434-4C>G | |
| XR_247288.2:n.472-4C>G | ||
| NM_001330209.1:c.112-4C>G | NP_001317138.1:n.112-4C>G | |
| NM_001330210.1:c.-434-4C>G | NP_001317139.1:n.-434-4C>G | |
| XM_005274606.4:c.-33-4C>G | XP_005274663.1:n.-33-4C>G | |
| XM_011545592.3:c.97+178C>G | XP_011543894.1:n.97+178C>G | |
| XM_011545594.3:c.-32-182C>G | XP_011543896.1:n.-32-182C>G | |
| XM_011545597.2:c.-434-4C>G | XP_011543899.1:n.-434-4C>G | |
| XM_017029909.1:c.-256-182C>G | XP_016885398.1:n.-256-182C>G | |
| XM_024452468.1:c.-1828-4C>G | XP_024308236.1:n.-1828-4C>G | |
| XM_024452469.1:c.-1828-4C>G | XP_024308237.1:n.-1828-4C>G | |
| XM_024452470.1:c.-1650-182C>G | XP_024308238.1:n.-1650-182C>G | |
| XM_024452471.1:c.-1828-4C>G | XP_024308239.1:n.-1828-4C>G | |
| NM_003611.3:c.112-4C>G MANE Select | NP_003602.1:n.112-4C>G | |
| NM_001330209.2:c.112-4C>G | NP_001317138.1:n.112-4C>G | |
| NM_001330210.2:c.-434-4C>G | NP_001317139.1:n.-434-4C>G |