Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31326584G>C , CM000680.2:g.31326584G>C | GRCh38 |
| NC_000018.9:g.28906547G>C , CM000680.1:g.28906547G>C | GRCh37 |
| NC_000018.8:g.27160545G>C | NCBI36 |
| NG_011803.2:g.13496G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257192.5:c.52G>C MANE Select | ENSP00000257192.4:p.Val18Leu | |
| ENST00000257192.4:c.52G>C | ENSP00000257192.4:p.Val18Leu | |
| NM_001942.3:c.52G>C | NP_001933.2:p.Val18Leu | |
| NM_001942.4:c.52G>C MANE Select | NP_001933.2:p.Val18Leu |