Linked Data
ClinVar Variation Id:
225144
dbSNP Id:
rs12406197
ExAC:
1:179545050 C / A
gnomAD v2:
1-179545050-C-A
gnomAD v3:
1-179575915-C-A
gnomAD v4:
1-179575915-C-A
PubMed:
PMID:16900088
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179575915C>A , CM000663.2:g.179575915C>A | GRCh38 |
| NC_000001.10:g.179545050C>A , CM000663.1:g.179545050C>A | GRCh37 |
| NC_000001.9:g.177811673C>A | NCBI36 |
| NG_007535.1:g.5035G>T , LRG_887:g.5035G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367615.9:c.-51G>T MANE Select | ENSP00000356587.4:n.-51G>T | |
| ENST00000367615.8:c.-51G>T | ENSP00000356587.4:n.-51G>T | |
| ENST00000367616.4:c.-51G>T | ENSP00000356588.4:n.-51G>T | |
| NM_001297575.1:c.-51G>T | NP_001284504.1:n.-51G>T | |
| NM_014625.3:c.-51G>T , LRG_887t1:c.-51G>T | NP_055440.1:n.-51G>T | |
| XM_005245483.2:c.-51G>T | XP_005245540.1:n.-51G>T | |
| XM_006711529.2:c.-51G>T | XP_006711592.1:n.-51G>T | |
| XM_005245483.3:c.-51G>T | XP_005245540.1:n.-51G>T | |
| XM_017002298.1:c.-51G>T | XP_016857787.1:n.-51G>T | |
| XM_017002299.1:c.-51G>T | XP_016857788.1:n.-51G>T | |
| NM_001297575.2:c.-51G>T | NP_001284504.1:n.-51G>T | |
| NM_014625.4:c.-51G>T MANE Select | NP_055440.1:n.-51G>T |