Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165069166C>G , CM000665.2:g.165069166C>G | GRCh38 |
| NC_000003.11:g.164786954C>G , CM000665.1:g.164786954C>G | GRCh37 |
| NC_000003.10:g.166269648C>G | NCBI36 |
| NG_017043.1:g.14330G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.285G>C MANE Select | ENSP00000264382.3:p.Trp95Cys | |
| ENST00000264382.7:c.285G>C | ENSP00000264382.3:p.Trp95Cys | |
| ENST00000476593.1:c.*160G>C | ENSP00000419450.1:n.*160G>C | |
| NM_001041.3:c.285G>C | NP_001032.2:p.Trp95Cys | |
| XM_011513078.1:c.186G>C | XP_011511380.1:p.Trp62Cys | |
| XM_011513078.2:c.186G>C | XP_011511380.1:p.Trp62Cys | |
| NM_001041.4:c.285G>C MANE Select | NP_001032.2:p.Trp95Cys |