Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48587421T>G , CM000681.2:g.48587421T>G | GRCh38 |
| NC_000019.9:g.49090678T>G , CM000681.1:g.49090678T>G | GRCh37 |
| NC_000019.8:g.53782490T>G | NCBI36 |
| NG_029063.1:g.40250T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201586.7:c.407T>G MANE Select | ENSP00000201586.2:p.Phe136Cys | |
| ENST00000201586.6:c.407T>G | ENSP00000201586.1:p.Phe136Cys | |
| ENST00000323090.4:c.362T>G | ENSP00000312880.3:p.Phe121Cys | |
| NM_004605.2:c.362T>G | NP_004596.2:p.Phe121Cys | |
| NM_177973.1:c.407T>G | NP_814444.1:p.Phe136Cys | |
| NM_177973.2:c.407T>G MANE Select | NP_814444.1:p.Phe136Cys |