Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034316A>C , CM000672.2:g.104034316A>C | GRCh38 |
| NC_000010.10:g.105794074A>C , CM000672.1:g.105794074A>C | GRCh37 |
| NC_000010.9:g.105784064A>C | NCBI36 |
| NG_007069.1:g.56565T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.3539T>G | ENSP00000358748.3:p.Phe1180Cys | |
| ENST00000648076.2:c.3785T>G MANE Select | ENSP00000497653.1:p.Phe1262Cys | |
| ENST00000353479.9:c.3785T>G | ENSP00000340937.5:p.Phe1262Cys | |
| ENST00000369733.7:c.3539T>G | ENSP00000358748.3:p.Phe1180Cys | |
| NM_000494.3:c.3785T>G | NP_000485.3:p.Phe1262Cys | |
| NM_000494.4:c.3785T>G MANE Select | NP_000485.3:p.Phe1262Cys |