Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52033538G>A , CM000666.2:g.52033538G>A | GRCh38 |
| NC_000004.11:g.52899704G>A , CM000666.1:g.52899704G>A | GRCh37 |
| NC_000004.10:g.52594461G>A | NCBI36 |
| NG_008891.1:g.9782C>T , LRG_204:g.9782C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.136C>T MANE Select | ENSP00000370839.6:p.Pro46Ser | |
| ENST00000381431.9:c.136C>T | ENSP00000370839.5:p.Pro46Ser | |
| ENST00000506357.5:c.122C>T | ||
| ENST00000514133.1:c.103C>T | ENSP00000425818.1:p.Pro35Ser | |
| NM_000232.4:c.136C>T , LRG_204t1:c.136C>T | NP_000223.1:p.Pro46Ser | |
| XM_011534403.1:c.34-3675C>T | XP_011532705.1:n.34-3675C>T | |
| NM_000232.5:c.136C>T MANE Select | NP_000223.1:p.Pro46Ser |