Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227062T>A , CM000664.2:g.29227062T>A | GRCh38 |
| NC_000002.11:g.29449928T>A , CM000664.1:g.29449928T>A | GRCh37 |
| NC_000002.10:g.29303432T>A | NCBI36 |
| NG_009445.1:g.699505A>T , LRG_488:g.699505A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2927A>T MANE Select | ENSP00000373700.3:p.His976Leu | |
| ENST00000431873.6:c.93A>T | ||
| ENST00000389048.7:c.2927A>T | ENSP00000373700.3:p.His976Leu | |
| ENST00000618119.4:c.1796A>T | ENSP00000482733.1:p.His599Leu | |
| NM_004304.4:c.2927A>T | NP_004295.2:p.His976Leu | |
| XM_024452778.1:c.80A>T | XP_024308546.1:p.His27Leu | |
| XR_001738688.2:n.3783A>T | ||
| NM_004304.5:c.2927A>T MANE Select | NP_004295.2:p.His976Leu |