Linked Data
ClinVar Variation Id:
189776
dbSNP Id:
rs786205048
gnomAD v4:
X-154097603-C-T
PubMed:
PMID:15737703
ERepo:
CA274678/MONDO:0010726/016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097603C>T , CM000685.2:g.154097603C>T | GRCh38 |
| NC_000023.10:g.153363060C>T , CM000685.1:g.153363060C>T | GRCh37 |
| NC_000023.9:g.153016254C>T | NCBI36 |
| NG_007107.2:g.44519G>A | |
| NG_007107.3:g.44501G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700484.1:n.22+1G>A | ||
| ENST00000303391.11:c.-99+1G>A MANE Plus Clinical | ENSP00000301948.6:n.-99+1G>A | |
| ENST00000453960.7:c.62+1G>A MANE Select | ENSP00000395535.2:n.62+1G>A | |
| ENST00000676382.1:n.22+1G>A | ||
| ENST00000303391.10:c.-99+1G>A | ENSP00000301948.6:n.-99+1G>A | |
| ENST00000369957.5:c.-99+1G>A | ENSP00000358973.4:n.-99+1G>A | |
| ENST00000407218.5:c.62+1G>A | ENSP00000384865.2:n.62+1G>A | |
| ENST00000453960.6:c.62+1G>A | ENSP00000395535.2:n.62+1G>A | |
| ENST00000619732.4:c.-99+1G>A | ENSP00000480973.1:n.-99+1G>A | |
| ENST00000627864.1:n.77+1G>A | ||
| ENST00000628176.2:c.-99+1G>A | ENSP00000486978.1:n.-99+1G>A | |
| ENST00000631210.1:n.305+7178G>A | ||
| NM_001110792.1:c.62+1G>A | NP_001104262.1:n.62+1G>A | |
| NM_001316337.1:c.-546+1G>A | NP_001303266.1:n.-546+1G>A | |
| NM_004992.3:c.-99+1G>A | NP_004983.1:n.-99+1G>A | |
| XM_005274682.3:c.-490+1G>A | XP_005274739.1:n.-490+1G>A | |
| NM_001110792.2:c.62+1G>A MANE Select | NP_001104262.1:n.62+1G>A | |
| NM_001316337.2:c.-546+1G>A | NP_001303266.1:n.-546+1G>A | |
| NM_001369391.2:c.-841+1G>A | NP_001356320.1:n.-841+1G>A | |
| NM_001369392.2:c.-490+1G>A | NP_001356321.1:n.-490+1G>A | |
| NM_001369393.2:c.-366+1G>A | NP_001356322.1:n.-366+1G>A | |
| NM_001386137.1:c.-771+1G>A | NP_001373066.1:n.-771+1G>A | |
| NM_001386138.1:c.-659+1G>A | NP_001373067.1:n.-659+1G>A | |
| NM_001386139.1:c.-535+1G>A | NP_001373068.1:n.-535+1G>A | |
| NM_004992.4:c.-99+1G>A MANE Plus Clinical | NP_004983.1:n.-99+1G>A |