Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224177A>G , CM000665.2:g.52224177A>G | GRCh38 |
| NC_000003.11:g.52258193A>G , CM000665.1:g.52258193A>G | GRCh37 |
| NC_000003.10:g.52233233A>G | NCBI36 |
| NG_033933.1:g.6987T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360658.3:c.139T>C MANE Select | ENSP00000353874.2:p.Trp47Arg | |
| ENST00000360658.2:c.139T>C | ENSP00000353874.2:p.Trp47Arg | |
| ENST00000478201.1:c.313T>C | ||
| ENST00000494383.1:c.599T>C | ||
| NM_017442.3:c.139T>C | NP_059138.1:p.Trp47Arg | |
| NM_017442.4:c.139T>C MANE Select | NP_059138.1:p.Trp47Arg |