Linked Data
ClinVar Variation Id:
2252139
ClinVar RCV Id:
RCV002777044
dbSNP Id:
rs1748242230
gnomAD v4:
5-56882228-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56882228A>T , CM000667.2:g.56882228A>T | GRCh38 |
| NC_000005.9:g.56178055A>T , CM000667.1:g.56178055A>T | GRCh37 |
| NC_000005.8:g.56213812A>T | NCBI36 |
| NG_031884.1:g.72156A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.3028A>T MANE Select | ENSP00000382423.3:p.Ile1010Phe | |
| ENST00000399503.3:c.3028A>T | ENSP00000382423.3:p.Ile1010Phe | |
| NM_005921.1:c.3028A>T | NP_005912.1:p.Ile1010Phe | |
| XM_005248519.3:c.2650A>T | XP_005248576.2:p.Ile884Phe | |
| XM_011543406.1:c.2773A>T | XP_011541708.1:p.Ile925Phe | |
| XM_011543407.1:c.2749A>T | XP_011541709.1:p.Ile917Phe | |
| XM_011543408.1:c.3028A>T | XP_011541710.1:p.Ile1010Phe | |
| XM_017009484.1:c.2617A>T | XP_016864973.1:p.Ile873Phe | |
| XM_017009485.1:c.2539A>T | XP_016864974.1:p.Ile847Phe | |
| XR_001742068.2:n.3059A>T | ||
| NM_005921.2:c.3028A>T MANE Select | NP_005912.1:p.Ile1010Phe |