Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312836G>C , CM000673.2:g.118312836G>C | GRCh38 |
| NC_000011.9:g.118183551G>C , CM000673.1:g.118183551G>C | GRCh37 |
| NC_000011.8:g.117688761G>C | NCBI36 |
| NG_007383.1:g.13257G>C , LRG_38:g.13257G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.322G>C MANE Select | ENSP00000354566.4:p.Ala108Pro | |
| ENST00000361763.8:c.322G>C | ENSP00000354566.4:p.Ala108Pro | |
| ENST00000526146.5:n.868G>C | ||
| ENST00000528435.5:n.875G>C | ||
| ENST00000528600.1:c.304G>C | ENSP00000433975.1:p.Ala102Pro | |
| ENST00000529713.5:n.428G>C | ||
| ENST00000531913.1:n.693G>C | ||
| NM_000733.3:c.322G>C , LRG_38t1:c.322G>C | NP_000724.1:p.Ala108Pro | |
| NM_000733.4:c.322G>C MANE Select | NP_000724.1:p.Ala108Pro |