Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168716C>A , CM000673.2:g.118168716C>A | GRCh38 |
| NC_000011.9:g.118039431C>A , CM000673.1:g.118039431C>A | GRCh37 |
| NC_000011.8:g.117544641C>A | NCBI36 |
| NG_042217.1:g.12907G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.106G>T MANE Select | ENSP00000278947.5:p.Ala36Ser | |
| ENST00000658882.1:c.210G>T | ENSP00000499572.1:p.Leu70= | |
| ENST00000665446.1:n.342G>T | ||
| ENST00000669850.1:n.348G>T | ||
| ENST00000278947.5:c.106G>T | ENSP00000278947.5:p.Ala36Ser | |
| NM_004588.4:c.106G>T | NP_004579.1:p.Ala36Ser | |
| NM_004588.5:c.106G>T MANE Select | NP_004579.1:p.Ala36Ser |