Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275018T>A , CM000672.2:g.80275018T>A | GRCh38 |
| NC_000010.10:g.82034774T>A , CM000672.1:g.82034774T>A | GRCh37 |
| NC_000010.9:g.82024754T>A | NCBI36 |
| NG_008083.1:g.19661A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.950A>T MANE Select | ENSP00000361287.3:p.Gln317Leu | |
| ENST00000372213.7:c.950A>T | ENSP00000361287.3:p.Gln317Leu | |
| ENST00000480845.1:n.182A>T | ||
| ENST00000485270.5:n.462A>T | ||
| NM_000429.2:c.950A>T | NP_000420.1:p.Gln317Leu | |
| XM_005269842.3:c.950A>T | XP_005269899.1:p.Gln317Leu | |
| XM_005269843.3:c.827A>T | XP_005269900.1:p.Gln276Leu | |
| NM_000429.3:c.950A>T MANE Select | NP_000420.1:p.Gln317Leu |