Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226970A>T , CM000664.2:g.29226970A>T | GRCh38 |
| NC_000002.11:g.29449836A>T , CM000664.1:g.29449836A>T | GRCh37 |
| NC_000002.10:g.29303340A>T | NCBI36 |
| NG_009445.1:g.699597T>A , LRG_488:g.699597T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3019T>A MANE Select | ENSP00000373700.3:p.Phe1007Ile | |
| ENST00000431873.6:c.185T>A | ||
| ENST00000389048.7:c.3019T>A | ENSP00000373700.3:p.Phe1007Ile | |
| ENST00000618119.4:c.1888T>A | ENSP00000482733.1:p.Phe630Ile | |
| NM_004304.4:c.3019T>A | NP_004295.2:p.Phe1007Ile | |
| XM_024452778.1:c.172T>A | XP_024308546.1:p.Phe58Ile | |
| XR_001738688.2:n.3875T>A | ||
| NM_004304.5:c.3019T>A MANE Select | NP_004295.2:p.Phe1007Ile |