Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350280T>A , CM000672.2:g.47350280T>A | GRCh38 |
| NC_000010.10:g.48389082A>T , CM000672.1:g.48389082A>T | GRCh37 |
| NC_000010.9:g.48009088A>T | NCBI36 |
| NG_029718.1:g.6910T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1796T>A MANE Select | ENSP00000463151.1:p.Ile599Asn | |
| ENST00000584701.1:c.1796T>A | ENSP00000463151.1:p.Ile599Asn | |
| NM_002900.2:c.1796T>A | NP_002891.1:p.Ile599Asn | |
| NM_002900.3:c.1796T>A MANE Select | NP_002891.1:p.Ile599Asn |