Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228130C>A , CM000679.2:g.66228130C>A | GRCh38 |
| NC_000017.10:g.64224248C>A , CM000679.1:g.64224248C>A | GRCh37 |
| NC_000017.9:g.61654710C>A | NCBI36 |
| NG_012045.1:g.6309G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.131G>T MANE Select | ENSP00000205948.6:p.Gly44Val | |
| ENST00000205948.10:c.131G>T | ENSP00000205948.6:p.Gly44Val | |
| ENST00000577982.1:c.131G>T | ENSP00000464301.1:p.Gly44Val | |
| ENST00000581797.5:c.-50G>T | ENSP00000463553.1:n.-50G>T | |
| NM_000042.2:c.131G>T | NP_000033.2:p.Gly44Val | |
| NM_000042.3:c.131G>T MANE Select | NP_000033.2:p.Gly44Val |