Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778283A>C , CM000682.2:g.6778283A>C | GRCh38 |
| NC_000020.10:g.6758930A>C , CM000682.1:g.6758930A>C | GRCh37 |
| NC_000020.9:g.6706930A>C | NCBI36 |
| NG_023233.1:g.15186A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.385A>C MANE Select | ENSP00000368104.3:p.Thr129Pro | |
| ENST00000378827.4:c.385A>C | ENSP00000368104.3:p.Thr129Pro | |
| NM_001200.2:c.385A>C | NP_001191.1:p.Thr129Pro | |
| XM_011529323.1:c.-84A>C | XP_011527625.1:n.-84A>C | |
| NM_001200.3:c.385A>C | NP_001191.1:p.Thr129Pro | |
| NM_001200.4:c.385A>C MANE Select | NP_001191.1:p.Thr129Pro |