Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832856T>C , CM000673.2:g.116832856T>C | GRCh38 |
| NC_000011.9:g.116703572T>C , CM000673.1:g.116703572T>C | GRCh37 |
| NC_000011.8:g.116208782T>C | NCBI36 |
| NG_008949.1:g.7949T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.272T>C MANE Select | ENSP00000227667.2:p.Val91Ala | |
| ENST00000227667.7:c.272T>C | ENSP00000227667.2:p.Val91Ala | |
| ENST00000375345.3:c.326T>C | ENSP00000364494.1:p.Val109Ala | |
| ENST00000630701.1:c.326T>C | ENSP00000486182.1:p.Val109Ala | |
| NM_000040.1:c.272T>C | NP_000031.1:p.Val91Ala | |
| NM_000040.2:c.272T>C | NP_000031.1:p.Val91Ala | |
| NM_000040.3:c.272T>C MANE Select | NP_000031.1:p.Val91Ala |