Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23212150C>A , CM000670.2:g.23212150C>A | GRCh38 |
| NC_000008.10:g.23069663C>A , CM000670.1:g.23069663C>A | GRCh37 |
| NC_000008.9:g.23125608C>A | NCBI36 |
| NG_032107.1:g.18018G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.369G>T MANE Select | ENSP00000221132.3:p.Trp123Cys | |
| ENST00000221132.7:c.369G>T | ENSP00000221132.3:p.Trp123Cys | |
| ENST00000524158.5:c.-238G>T | ENSP00000428884.1:n.-238G>T | |
| ENST00000613472.1:c.32-9491G>T | ENSP00000480778.1:n.32-9491G>T | |
| NM_003844.3:c.369G>T | NP_003835.3:p.Trp123Cys | |
| NM_003844.4:c.369G>T MANE Select | NP_003835.3:p.Trp123Cys |