Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80280253C>A , CM000672.2:g.80280253C>A | GRCh38 |
| NC_000010.10:g.82040009C>A , CM000672.1:g.82040009C>A | GRCh37 |
| NC_000010.9:g.82029989C>A | NCBI36 |
| NG_008083.1:g.14426G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.469G>T MANE Select | ENSP00000361287.3:p.Ala157Ser | |
| ENST00000372213.7:c.469G>T | ENSP00000361287.3:p.Ala157Ser | |
| ENST00000455001.1:c.280G>T | ENSP00000414961.1:p.Ala94Ser | |
| NM_000429.2:c.469G>T | NP_000420.1:p.Ala157Ser | |
| XM_005269842.3:c.469G>T | XP_005269899.1:p.Ala157Ser | |
| XM_005269843.3:c.346G>T | XP_005269900.1:p.Ala116Ser | |
| NM_000429.3:c.469G>T MANE Select | NP_000420.1:p.Ala157Ser |