Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122177C>A , CM000668.2:g.18122177C>A | GRCh38 |
| NC_000006.11:g.18122408C>A , CM000668.1:g.18122408C>A | GRCh37 |
| NC_000006.10:g.18230387C>A | NCBI36 |
| NG_016750.1:g.5444G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340650.6:c.430G>T MANE Select | ENSP00000345464.3:p.Val144Leu | |
| ENST00000340650.4:c.430G>T | ENSP00000345464.3:p.Val144Leu | |
| NM_198586.2:c.430G>T | NP_940988.2:p.Val144Leu | |
| NM_198586.3:c.430G>T MANE Select | NP_940988.2:p.Val144Leu |