Linked Data
ClinVar Variation Id:
1209431
ClinVar RCV Id:
RCV001578090
dbSNP Id:
rs2066907537
gnomAD v3:
X-154097688-G-A
gnomAD v4:
X-154097688-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097688G>A , CM000685.2:g.154097688G>A | GRCh38 |
| NC_000023.10:g.153363145G>A , CM000685.1:g.153363145G>A | GRCh37 |
| NC_000023.9:g.153016339G>A | NCBI36 |
| NG_007107.2:g.44434C>T | |
| NG_007107.3:g.44416C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.-183C>T MANE Plus Clinical | ENSP00000301948.6:n.-183C>T | |
| ENST00000453960.7:c.-23C>T MANE Select | ENSP00000395535.2:n.-23C>T | |
| ENST00000303391.10:c.-183C>T | ENSP00000301948.6:n.-183C>T | |
| ENST00000407218.5:c.-23C>T | ENSP00000384865.2:n.-23C>T | |
| ENST00000453960.6:c.-23C>T | ENSP00000395535.2:n.-23C>T | |
| ENST00000619732.4:c.-183C>T | ENSP00000480973.1:n.-183C>T | |
| ENST00000628176.2:c.-183C>T | ENSP00000486978.1:n.-183C>T | |
| ENST00000631210.1:n.305+7093C>T | ||
| NM_001110792.1:c.-23C>T | NP_001104262.1:n.-23C>T | |
| NM_001316337.1:c.-630C>T | NP_001303266.1:n.-630C>T | |
| NM_004992.3:c.-183C>T | NP_004983.1:n.-183C>T | |
| NM_001110792.2:c.-23C>T MANE Select | NP_001104262.1:n.-23C>T | |
| NM_001316337.2:c.-630C>T | NP_001303266.1:n.-630C>T | |
| NM_001369391.2:c.-925C>T | NP_001356320.1:n.-925C>T | |
| NM_001369392.2:c.-574C>T | NP_001356321.1:n.-574C>T | |
| NM_001369393.2:c.-450C>T | NP_001356322.1:n.-450C>T | |
| NM_001386137.1:c.-855C>T | NP_001373066.1:n.-855C>T | |
| NM_001386138.1:c.-743C>T | NP_001373067.1:n.-743C>T | |
| NM_001386139.1:c.-619C>T | NP_001373068.1:n.-619C>T | |
| NM_004992.4:c.-183C>T MANE Plus Clinical | NP_004983.1:n.-183C>T |