Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755406C>A , CM000679.2:g.43755406C>A | GRCh38 |
| NC_000017.10:g.41832774C>A , CM000679.1:g.41832774C>A | GRCh37 |
| NC_000017.9:g.39188300C>A | NCBI36 |
| NG_008078.2:g.8383G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.578G>T MANE Select | ENSP00000301691.1:p.Arg193Leu | |
| ENST00000301691.2:c.578G>T | ENSP00000301691.1:p.Arg193Leu | |
| NM_025237.2:c.578G>T | NP_079513.1:p.Arg193Leu | |
| NM_025237.3:c.578G>T MANE Select | NP_079513.1:p.Arg193Leu |