Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33944787A>T , CM000667.2:g.33944787A>T | GRCh38 |
| NC_000005.9:g.33944892A>T , CM000667.1:g.33944892A>T | GRCh37 |
| NC_000005.8:g.33980649A>T | NCBI36 |
| NG_011691.2:g.44889T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1454T>A MANE Select | ENSP00000296589.4:p.Leu485Gln | |
| ENST00000296589.8:c.1454T>A | ENSP00000296589.4:p.Leu485Gln | |
| NM_016180.4:c.1454T>A | NP_057264.3:p.Leu485Gln | |
| XM_011514051.1:c.1052T>A | XP_011512353.1:p.Leu351Gln | |
| NM_016180.5:c.1454T>A MANE Select | NP_057264.4:p.Leu485Gln |