Linked Data
ClinVar Variation Id:
915583
dbSNP Id:
rs770777166
ExAC:
11:47372802 C / A
gnomAD v2:
11-47372802-C-A
gnomAD v4:
11-47351251-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47351251C>A , CM000673.2:g.47351251C>A | GRCh38 |
| NC_000011.9:g.47372802C>A , CM000673.1:g.47372802C>A | GRCh37 |
| NC_000011.8:g.47329378C>A | NCBI36 |
| NG_007667.1:g.6452G>T , LRG_386:g.6452G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.280G>T MANE Select | ENSP00000442795.1:p.Val94Phe | |
| ENST00000256993.8:c.280G>T | ENSP00000256993.5:p.Val94Phe | |
| ENST00000399249.6:c.280G>T | ENSP00000382193.2:p.Val94Phe | |
| ENST00000544791.1:c.280G>T | ENSP00000444259.1:p.Val94Phe | |
| ENST00000545968.5:c.280G>T | ENSP00000442795.1:p.Val94Phe | |
| NM_000256.3:c.280G>T , LRG_386t1:c.280G>T MANE Select | NP_000247.2:p.Val94Phe | |
| XM_011520117.1:c.280G>T | XP_011518419.1:p.Val94Phe | |
| XM_011520118.1:c.280G>T | XP_011518420.1:p.Val94Phe |