Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73641006A>T , CM000664.2:g.73641006A>T | GRCh38 |
| NC_000002.11:g.73868133A>T , CM000664.1:g.73868133A>T | GRCh37 |
| NC_000002.10:g.73721641A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.623T>A MANE Select | ENSP00000272425.3:p.Val208Glu | |
| ENST00000272425.3:c.623T>A | ENSP00000272425.3:p.Val208Glu | |
| NM_003960.3:c.623T>A | NP_003951.3:p.Val208Glu | |
| NM_003960.4:c.623T>A MANE Select | NP_003951.3:p.Val208Glu |