Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21200631A>C , CM000674.2:g.21200631A>C | GRCh38 |
| NC_000012.11:g.21353565A>C , CM000674.1:g.21353565A>C | GRCh37 |
| NC_000012.10:g.21244832A>C | NCBI36 |
| NG_011745.1:g.74438A>C , LRG_1022:g.74438A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.1094A>C MANE Select | ENSP00000256958.2:p.Gln365Pro | |
| ENST00000256958.2:c.1094A>C | ENSP00000256958.2:p.Gln365Pro | |
| NM_006446.4:c.1094A>C , LRG_1022t1:c.1094A>C | NP_006437.3:p.Gln365Pro | |
| NM_006446.5:c.1094A>C MANE Select | NP_006437.3:p.Gln365Pro |