Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541947T>A , CM000671.2:g.98541947T>A | GRCh38 |
| NC_000009.11:g.101304229T>A , CM000671.1:g.101304229T>A | GRCh37 |
| NC_000009.10:g.100344050T>A | NCBI36 |
| NG_016426.1:g.172251A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.556A>T MANE Select | ENSP00000259455.2:p.Ile186Phe | |
| ENST00000637410.1:n.334A>T | ||
| ENST00000637717.1:c.172A>T | ENSP00000490789.1:p.Ile58Phe | |
| ENST00000259455.3:c.556A>T | ENSP00000259455.2:p.Ile186Phe | |
| ENST00000477471.1:n.343A>T | ||
| ENST00000634227.1:n.330A>T | ||
| NM_005458.7:c.556A>T | NP_005449.5:p.Ile186Phe | |
| XM_017015331.2:c.262A>T | XP_016870820.1:p.Ile88Phe | |
| NM_005458.8:c.556A>T MANE Select | NP_005449.5:p.Ile186Phe |