Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48974723A>C , CM000681.2:g.48974723A>C | GRCh38 |
| NC_000019.9:g.49477980A>C , CM000681.1:g.49477980A>C | GRCh37 |
| NC_000019.8:g.54169792A>C | NCBI36 |
| NG_012923.1:g.23631T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323798.8:c.1319T>G MANE Select | ENSP00000317904.3:p.Phe440Cys | |
| ENST00000263276.6:c.1127T>G | ENSP00000263276.6:p.Phe376Cys | |
| ENST00000323798.7:c.1319T>G | ENSP00000317904.3:p.Phe440Cys | |
| ENST00000472004.5:n.74T>G | ||
| ENST00000496048.1:n.226T>G | ||
| NM_001161587.1:c.1127T>G | NP_001155059.1:p.Phe376Cys | |
| NM_002103.4:c.1319T>G | NP_002094.2:p.Phe440Cys | |
| NR_027763.1:n.1378T>G | ||
| NM_002103.5:c.1319T>G MANE Select | NP_002094.2:p.Phe440Cys | |
| NM_001161587.2:c.1127T>G | NP_001155059.1:p.Phe376Cys | |
| NR_027763.2:n.1334T>G |