Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966083G>C , CM000670.2:g.37966083G>C | GRCh38 |
| NC_000008.10:g.37823601G>C , CM000670.1:g.37823601G>C | GRCh37 |
| NC_000008.9:g.37942758G>C | NCBI36 |
| NG_011936.1:g.5584C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345060.5:c.387C>G MANE Select | ENSP00000343782.3:p.Cys129Trp | |
| ENST00000520341.2:n.515C>G | ||
| ENST00000345060.4:c.387C>G | ENSP00000343782.3:p.Cys129Trp | |
| ENST00000614635.1:c.387C>G | ENSP00000480325.1:p.Cys129Trp | |
| NM_000025.2:c.387C>G | NP_000016.1:p.Cys129Trp | |
| NM_000025.3:c.387C>G MANE Select | NP_000016.1:p.Cys129Trp |