Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48587342G>T , CM000681.2:g.48587342G>T | GRCh38 |
| NC_000019.9:g.49090599G>T , CM000681.1:g.49090599G>T | GRCh37 |
| NC_000019.8:g.53782411G>T | NCBI36 |
| NG_029063.1:g.40171G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201586.7:c.328G>T MANE Select | ENSP00000201586.2:p.Ala110Ser | |
| ENST00000201586.6:c.328G>T | ENSP00000201586.1:p.Ala110Ser | |
| ENST00000323090.4:c.283G>T | ENSP00000312880.3:p.Ala95Ser | |
| NM_004605.2:c.283G>T | NP_004596.2:p.Ala95Ser | |
| NM_177973.1:c.328G>T | NP_814444.1:p.Ala110Ser | |
| NM_177973.2:c.328G>T MANE Select | NP_814444.1:p.Ala110Ser |