Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993100A>C , CM000670.2:g.16993100A>C | GRCh38 |
| NC_000008.10:g.16850609A>C , CM000670.1:g.16850609A>C | GRCh37 |
| NC_000008.9:g.16894980A>C | NCBI36 |
| NG_015978.1:g.14066T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.608T>G MANE Select | ENSP00000180166.5:p.Leu203Trp | |
| ENST00000180166.5:c.608T>G | ENSP00000180166.5:p.Leu203Trp | |
| ENST00000519941.1:c.312T>G | ||
| NM_019851.2:c.608T>G | NP_062825.1:p.Leu203Trp | |
| NM_019851.3:c.608T>G MANE Select | NP_062825.1:p.Leu203Trp |