Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224173A>C , CM000665.2:g.52224173A>C | GRCh38 |
| NC_000003.11:g.52258189A>C , CM000665.1:g.52258189A>C | GRCh37 |
| NC_000003.10:g.52233229A>C | NCBI36 |
| NG_033933.1:g.6991T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360658.3:c.143T>G MANE Select | ENSP00000353874.2:p.Leu48Arg | |
| ENST00000360658.2:c.143T>G | ENSP00000353874.2:p.Leu48Arg | |
| ENST00000478201.1:c.317T>G | ||
| ENST00000494383.1:c.603T>G | ||
| NM_017442.3:c.143T>G | NP_059138.1:p.Leu48Arg | |
| NM_017442.4:c.143T>G MANE Select | NP_059138.1:p.Leu48Arg |