Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213556T>G , CM000667.2:g.1213556T>G | GRCh38 |
| NC_000005.9:g.1213671T>G , CM000667.1:g.1213671T>G | GRCh37 |
| NC_000005.8:g.1266671T>G | NCBI36 |
| NG_008282.1:g.16962T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.757T>G MANE Select | ENSP00000305302.10:p.Phe253Val | |
| ENST00000304460.10:c.757T>G | ENSP00000305302.10:p.Phe253Val | |
| ENST00000515652.5:c.665T>G | ENSP00000425701.1:p.Leu222Arg | |
| NM_001003841.2:c.757T>G | NP_001003841.1:p.Phe253Val | |
| NM_001003841.3:c.757T>G MANE Select | NP_001003841.1:p.Phe253Val |