Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186539530A>C , CM000665.2:g.186539530A>C | GRCh38 |
| NC_000003.11:g.186257319A>C , CM000665.1:g.186257319A>C | GRCh37 |
| NC_000003.10:g.187740013A>C | NCBI36 |
| NG_009829.1:g.9849T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307944.6:c.89T>G MANE Select | ENSP00000312099.5:p.Phe30Cys | |
| ENST00000307944.5:c.89T>G | ENSP00000312099.5:p.Phe30Cys | |
| ENST00000392499.6:c.89T>G | ENSP00000376287.2:p.Phe30Cys | |
| ENST00000460288.1:n.991T>G | ||
| NM_017541.2:c.89T>G | NP_060011.1:p.Phe30Cys | |
| NM_017541.3:c.89T>G | NP_060011.1:p.Phe30Cys | |
| NM_017541.4:c.89T>G MANE Select | NP_060011.1:p.Phe30Cys |