Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224168G>C , CM000665.2:g.52224168G>C | GRCh38 |
| NC_000003.11:g.52258184G>C , CM000665.1:g.52258184G>C | GRCh37 |
| NC_000003.10:g.52233224G>C | NCBI36 |
| NG_033933.1:g.6996C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360658.3:c.148C>G MANE Select | ENSP00000353874.2:p.Leu50Val | |
| ENST00000360658.2:c.148C>G | ENSP00000353874.2:p.Leu50Val | |
| ENST00000478201.1:c.322C>G | ||
| ENST00000494383.1:c.608C>G | ||
| NM_017442.3:c.148C>G | NP_059138.1:p.Leu50Val | |
| NM_017442.4:c.148C>G MANE Select | NP_059138.1:p.Leu50Val |