Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320716A>T , CM000666.2:g.119320716A>T | GRCh38 |
| NC_000004.11:g.120241871A>T , CM000666.1:g.120241871A>T | GRCh37 |
| NC_000004.10:g.120461319A>T | NCBI36 |
| NG_011444.1:g.6446T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.194T>A MANE Select | ENSP00000274024.3:p.Leu65His | |
| ENST00000274024.3:c.194T>A | ENSP00000274024.3:p.Leu65His | |
| NM_000134.3:c.194T>A | NP_000125.2:p.Leu65His | |
| NM_000134.4:c.194T>A MANE Select | NP_000125.2:p.Leu65His |