Linked Data
ClinVar Variation Id:
11845
dbSNP Id:
rs179363901
gnomAD v2:
X-153363118-G-A
gnomAD v4:
X-154097661-G-A
PubMed:
PMID:19034540
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097661G>A , CM000685.2:g.154097661G>A | GRCh38 |
| NC_000023.10:g.153363118G>A , CM000685.1:g.153363118G>A | GRCh37 |
| NC_000023.9:g.153016312G>A | NCBI36 |
| NG_007107.2:g.44461C>T | |
| NG_007107.3:g.44443C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.-156C>T MANE Plus Clinical | ENSP00000301948.6:n.-156C>T | |
| ENST00000453960.7:c.5C>T MANE Select | ENSP00000395535.2:p.Ala2Val | |
| ENST00000303391.10:c.-156C>T | ENSP00000301948.6:n.-156C>T | |
| ENST00000369957.5:c.-156C>T | ENSP00000358973.4:n.-156C>T | |
| ENST00000407218.5:c.5C>T | ENSP00000384865.2:p.Ala2Val | |
| ENST00000453960.6:c.5C>T | ENSP00000395535.2:p.Ala2Val | |
| ENST00000619732.4:c.-156C>T | ENSP00000480973.1:n.-156C>T | |
| ENST00000627864.1:n.20C>T | ||
| ENST00000628176.2:c.-156C>T | ENSP00000486978.1:n.-156C>T | |
| ENST00000631210.1:n.305+7120C>T | ||
| NM_001110792.1:c.5C>T | NP_001104262.1:p.Ala2Val | |
| NM_001316337.1:c.-603C>T | NP_001303266.1:n.-603C>T | |
| NM_004992.3:c.-156C>T | NP_004983.1:n.-156C>T | |
| XM_005274682.3:c.-547C>T | XP_005274739.1:n.-547C>T | |
| NM_001110792.2:c.5C>T MANE Select | NP_001104262.1:p.Ala2Val | |
| NM_001316337.2:c.-603C>T | NP_001303266.1:n.-603C>T | |
| NM_001369391.2:c.-898C>T | NP_001356320.1:n.-898C>T | |
| NM_001369392.2:c.-547C>T | NP_001356321.1:n.-547C>T | |
| NM_001369393.2:c.-423C>T | NP_001356322.1:n.-423C>T | |
| NM_001386137.1:c.-828C>T | NP_001373066.1:n.-828C>T | |
| NM_001386138.1:c.-716C>T | NP_001373067.1:n.-716C>T | |
| NM_001386139.1:c.-592C>T | NP_001373068.1:n.-592C>T | |
| NM_004992.4:c.-156C>T MANE Plus Clinical | NP_004983.1:n.-156C>T |