Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224176C>T , CM000665.2:g.52224176C>T | GRCh38 |
| NC_000003.11:g.52258192C>T , CM000665.1:g.52258192C>T | GRCh37 |
| NC_000003.10:g.52233232C>T | NCBI36 |
| NG_033933.1:g.6988G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360658.3:c.140G>A MANE Select | ENSP00000353874.2:p.Trp47Ter | |
| ENST00000360658.2:c.140G>A | ENSP00000353874.2:p.Trp47Ter | |
| ENST00000478201.1:c.314G>A | ||
| ENST00000494383.1:c.600G>A | ||
| NM_017442.3:c.140G>A | NP_059138.1:p.Trp47Ter | |
| NM_017442.4:c.140G>A MANE Select | NP_059138.1:p.Trp47Ter |