Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519821G>C , CM000674.2:g.52519821G>C | GRCh38 |
| NC_000012.11:g.52913605G>C , CM000674.1:g.52913605G>C | GRCh37 |
| NC_000012.10:g.51199872G>C | NCBI36 |
| NG_008297.1:g.5639C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252242.9:c.476C>G MANE Select | ENSP00000252242.4:p.Pro159Arg | |
| ENST00000252242.8:c.476C>G | ENSP00000252242.4:p.Pro159Arg | |
| ENST00000549420.1:c.146C>G | ENSP00000447209.1:p.Pro49Arg | |
| ENST00000551275.1:c.371C>G | ENSP00000448041.1:p.Pro124Arg | |
| ENST00000552629.5:n.574C>G | ||
| NM_000424.3:c.476C>G | NP_000415.2:p.Pro159Arg | |
| NM_000424.4:c.476C>G MANE Select | NP_000415.2:p.Pro159Arg |