Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719430A>T , CM000667.2:g.71719430A>T | GRCh38 |
| NC_000005.9:g.71015257A>T , CM000667.1:g.71015257A>T | GRCh37 |
| NC_000005.8:g.71051013A>T | NCBI36 |
| NG_015988.1:g.5268A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.137A>T MANE Select | ENSP00000296777.4:p.Asp46Val | |
| ENST00000296777.4:c.137A>T | ENSP00000296777.4:p.Asp46Val | |
| NM_004291.3:c.137A>T | NP_004282.1:p.Asp46Val | |
| NM_004291.4:c.137A>T MANE Select | NP_004282.1:p.Asp46Val |