Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48587354C>G , CM000681.2:g.48587354C>G | GRCh38 |
| NC_000019.9:g.49090611C>G , CM000681.1:g.49090611C>G | GRCh37 |
| NC_000019.8:g.53782423C>G | NCBI36 |
| NG_029063.1:g.40183C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201586.7:c.340C>G MANE Select | ENSP00000201586.2:p.Pro114Ala | |
| ENST00000201586.6:c.340C>G | ENSP00000201586.1:p.Pro114Ala | |
| ENST00000323090.4:c.295C>G | ENSP00000312880.3:p.Pro99Ala | |
| NM_004605.2:c.295C>G | NP_004596.2:p.Pro99Ala | |
| NM_177973.1:c.340C>G | NP_814444.1:p.Pro114Ala | |
| NM_177973.2:c.340C>G MANE Select | NP_814444.1:p.Pro114Ala |