Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785021C>A , CM000681.2:g.18785021C>A | GRCh38 |
| NC_000019.9:g.18895831C>A , CM000681.1:g.18895831C>A | GRCh37 |
| NC_000019.8:g.18756831C>A | NCBI36 |
| NG_007070.1:g.11284G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1789G>T MANE Select | ENSP00000222271.2:p.Ala597Ser | |
| ENST00000222271.6:c.1789G>T | ENSP00000222271.2:p.Ala597Ser | |
| ENST00000425807.1:c.1630G>T | ENSP00000403792.1:p.Ala544Ser | |
| ENST00000542601.6:c.1690G>T | ENSP00000439156.2:p.Ala564Ser | |
| NM_000095.2:c.1789G>T | NP_000086.2:p.Ala597Ser | |
| NM_000095.3:c.1789G>T MANE Select | NP_000086.2:p.Ala597Ser |