Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74421780C>G , CM000685.2:g.74421780C>G | GRCh38 |
| NC_000023.10:g.73641615C>G , CM000685.1:g.73641615C>G | GRCh37 |
| NC_000023.9:g.73558340C>G | NCBI36 |
| NG_011641.1:g.5531C>G | |
| NG_011641.2:g.5531C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.143C>G MANE Select | ENSP00000465734.1:p.Pro48Arg | |
| ENST00000587091.5:c.143C>G | ENSP00000465734.1:p.Pro48Arg | |
| NM_006517.4:c.143C>G | NP_006508.2:p.Pro48Arg | |
| XM_005262294.1:c.143C>G | XP_005262351.1:p.Pro48Arg | |
| XM_011531015.1:c.143C>G | XP_011529317.1:p.Pro48Arg | |
| NM_006517.5:c.143C>G MANE Select | NP_006508.2:p.Pro48Arg |