Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4911904G>C , CM000674.2:g.4911904G>C | GRCh38 |
| NC_000012.11:g.5021070G>C , CM000674.1:g.5021070G>C | GRCh37 |
| NC_000012.10:g.4891331G>C | NCBI36 |
| NG_011815.1:g.6998G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.526G>C MANE Select | ENSP00000371985.3:p.Val176Leu | |
| ENST00000543874.3:n.105+1432G>C | ||
| ENST00000639306.1:c.364G>C | ENSP00000492506.1:p.Val122Leu | |
| ENST00000382545.3:c.526G>C | ENSP00000371985.3:p.Val176Leu | |
| ENST00000541095.1:n.105+1432G>C | ||
| ENST00000543874.2:n.96+1432G>C | ||
| NM_000217.2:c.526G>C | NP_000208.2:p.Val176Leu | |
| NM_000217.3:c.526G>C MANE Select | NP_000208.2:p.Val176Leu |