Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.121048445G>T , CM000685.2:g.121048445G>T | GRCh38 |
| NC_000023.10:g.120182299G>T , CM000685.1:g.120182299G>T | GRCh37 |
| NC_000023.9:g.120009980G>T | NCBI36 |
| NG_016456.1:g.5838G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328078.3:c.761G>T MANE Select | ENSP00000327589.1:p.Cys254Phe | |
| ENST00000328078.2:c.761G>T | ENSP00000327589.1:p.Cys254Phe | |
| NM_012084.3:c.761G>T | NP_036216.2:p.Cys254Phe | |
| NM_012084.4:c.761G>T MANE Select | NP_036216.2:p.Cys254Phe |