Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278307T>A , CM000678.2:g.2278307T>A | GRCh38 |
| NC_000016.9:g.2328308T>A , CM000678.1:g.2328308T>A | GRCh37 |
| NC_000016.8:g.2268309T>A | NCBI36 |
| NG_011790.1:g.67440A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4699A>T MANE Select | ENSP00000301732.5:p.Ile1567Phe | |
| ENST00000301732.9:c.4699A>T | ENSP00000301732.5:p.Ile1567Phe | |
| ENST00000382381.7:c.4525A>T | ENSP00000371818.3:p.Ile1509Phe | |
| ENST00000566200.1:n.1220A>T | ||
| NM_001089.2:c.4699A>T | NP_001080.2:p.Ile1567Phe | |
| NM_001089.3:c.4699A>T MANE Select | NP_001080.2:p.Ile1567Phe |