Linked Data
dbSNP Id:
rs201551125
ExAC:
6:160858156 A / T
gnomAD v2:
6-160858156-A-T
gnomAD v4:
6-160437124-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160437124A>T , CM000668.2:g.160437124A>T | GRCh38 |
| NC_000006.11:g.160858156A>T , CM000668.1:g.160858156A>T | GRCh37 |
| NC_000006.10:g.160778146A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275300.3:c.1201A>T MANE Select | ENSP00000275300.2:p.Ile401Phe | |
| ENST00000275300.2:c.1201A>T | ENSP00000275300.2:p.Ile401Phe | |
| NM_021977.3:c.1201A>T | NP_068812.1:p.Ile401Phe | |
| XM_005267106.3:c.808A>T | XP_005267163.1:p.Ile270Phe | |
| XM_011536075.1:c.745A>T | XP_011534377.1:p.Ile249Phe | |
| XM_011536076.1:c.745A>T | XP_011534378.1:p.Ile249Phe | |
| XM_011536077.1:c.745A>T | XP_011534379.1:p.Ile249Phe | |
| XR_245546.1:n.1018-5637A>T | ||
| XM_005267106.5:c.808A>T | XP_005267163.1:p.Ile270Phe | |
| XM_011536075.2:c.745A>T | XP_011534377.1:p.Ile249Phe | |
| XM_011536076.3:c.745A>T | XP_011534378.1:p.Ile249Phe | |
| XM_017011203.2:c.745A>T | XP_016866692.1:p.Ile249Phe | |
| XR_001743588.1:n.1145A>T | ||
| XR_001743589.1:n.1018-5637A>T | ||
| NM_021977.4:c.1201A>T MANE Select | NP_068812.1:p.Ile401Phe |