Linked Data
ClinVar Variation Id:
164588
dbSNP Id:
rs151269703
ExAC:
12:57431355 T / A
gnomAD v2:
12-57431355-T-A
gnomAD v3:
12-57037571-T-A
gnomAD v4:
12-57037571-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57037571T>A , CM000674.2:g.57037571T>A | GRCh38 |
| NC_000012.11:g.57431355T>A , CM000674.1:g.57431355T>A | GRCh37 |
| NC_000012.10:g.55717622T>A | NCBI36 |
| NG_012104.1:g.17539A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300119.8:c.2032A>T MANE Select | ENSP00000300119.3:p.Ile678Phe | |
| ENST00000300119.7:c.2032A>T | ENSP00000300119.3:p.Ile678Phe | |
| ENST00000442789.6:c.2032A>T | ENSP00000393392.2:p.Ile678Phe | |
| ENST00000554234.5:c.1546A>T | ENSP00000451033.1:p.Ile516Phe | |
| NM_001256041.1:c.2032A>T | NP_001242970.1:p.Ile678Phe | |
| NM_005379.3:c.2032A>T | NP_005370.1:p.Ile678Phe | |
| XM_011538373.1:c.2032A>T | XP_011536675.1:p.Ile678Phe | |
| XM_011538373.2:c.2032A>T | XP_011536675.1:p.Ile678Phe | |
| NM_005379.4:c.2032A>T MANE Select | NP_005370.1:p.Ile678Phe | |
| NM_001256041.2:c.2032A>T | NP_001242970.1:p.Ile678Phe |