Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965904C>A , CM000670.2:g.37965904C>A | GRCh38 |
| NC_000008.10:g.37823422C>A , CM000670.1:g.37823422C>A | GRCh37 |
| NC_000008.9:g.37942579C>A | NCBI36 |
| NG_011936.1:g.5763G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.566G>T MANE Select | ENSP00000343782.3:p.Cys189Phe | |
| ENST00000520341.2:n.694G>T | ||
| ENST00000647937.1:c.50G>T | ENSP00000497740.1:p.Cys17Phe | |
| ENST00000345060.4:c.566G>T | ENSP00000343782.3:p.Cys189Phe | |
| ENST00000614635.1:c.566G>T | ENSP00000480325.1:p.Cys189Phe | |
| NM_000025.2:c.566G>T | NP_000016.1:p.Cys189Phe | |
| NM_000025.3:c.566G>T MANE Select | NP_000016.1:p.Cys189Phe |