Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176801A>C , CM000674.2:g.21176801A>C | GRCh38 |
| NC_000012.11:g.21329735A>C , CM000674.1:g.21329735A>C | GRCh37 |
| NC_000012.10:g.21221002A>C | NCBI36 |
| NG_011745.1:g.50608A>C , LRG_1022:g.50608A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.385A>C MANE Select | ENSP00000256958.2:p.Ile129Leu | |
| ENST00000256958.2:c.385A>C | ENSP00000256958.2:p.Ile129Leu | |
| ENST00000543498.5:c.451A>C | ||
| NM_006446.4:c.385A>C , LRG_1022t1:c.385A>C | NP_006437.3:p.Ile129Leu | |
| NM_006446.5:c.385A>C MANE Select | NP_006437.3:p.Ile129Leu |