Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160247263T>A , CM000668.2:g.160247263T>A | GRCh38 |
| NC_000006.11:g.160668295T>A , CM000668.1:g.160668295T>A | GRCh37 |
| NC_000006.10:g.160588285T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366953.8:c.878A>T MANE Select | ENSP00000355920.3:p.Gln293Leu | |
| ENST00000366952.1:c.815A>T | ENSP00000355919.1:p.Gln272Leu | |
| ENST00000366953.7:c.878A>T | ENSP00000355920.3:p.Gln293Leu | |
| ENST00000491092.1:n.775A>T | ||
| NM_003058.3:c.878A>T | NP_003049.2:p.Gln293Leu | |
| NM_003058.4:c.878A>T MANE Select | NP_003049.2:p.Gln293Leu |