Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436687A>T , CM000678.2:g.67436687A>T | GRCh38 |
| NC_000016.9:g.67470590A>T , CM000678.1:g.67470590A>T | GRCh37 |
| NC_000016.8:g.66028091A>T | NCBI36 |
| NG_011482.1:g.49500T>A | |
| NG_016549.1:g.10555A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.902A>T MANE Select | ENSP00000316786.5:p.Glu301Val | |
| ENST00000326152.5:c.902A>T | ENSP00000316786.5:p.Glu301Val | |
| NM_000196.3:c.902A>T | NP_000187.3:p.Glu301Val | |
| NM_000196.4:c.902A>T MANE Select | NP_000187.3:p.Glu301Val |