Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755358A>C , CM000679.2:g.43755358A>C | GRCh38 |
| NC_000017.10:g.41832726A>C , CM000679.1:g.41832726A>C | GRCh37 |
| NC_000017.9:g.39188252A>C | NCBI36 |
| NG_008078.2:g.8431T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.626T>G MANE Select | ENSP00000301691.1:p.Leu209Arg | |
| ENST00000301691.2:c.626T>G | ENSP00000301691.1:p.Leu209Arg | |
| NM_025237.2:c.626T>G | NP_079513.1:p.Leu209Arg | |
| NM_025237.3:c.626T>G MANE Select | NP_079513.1:p.Leu209Arg |