Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519900G>C , CM000674.2:g.52519900G>C | GRCh38 |
| NC_000012.11:g.52913684G>C , CM000674.1:g.52913684G>C | GRCh37 |
| NC_000012.10:g.51199951G>C | NCBI36 |
| NG_008297.1:g.5560C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.397C>G MANE Select | ENSP00000252242.4:p.Pro133Ala | |
| ENST00000252242.8:c.397C>G | ENSP00000252242.4:p.Pro133Ala | |
| ENST00000549420.1:c.67C>G | ENSP00000447209.1:p.Pro23Ala | |
| ENST00000551275.1:c.292C>G | ENSP00000448041.1:p.Pro98Ala | |
| ENST00000552629.5:n.495C>G | ||
| NM_000424.3:c.397C>G | NP_000415.2:p.Pro133Ala | |
| NM_000424.4:c.397C>G MANE Select | NP_000415.2:p.Pro133Ala |