Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527276G>C , CM000685.2:g.48527276G>C | GRCh38 |
| NC_000023.10:g.48385664G>C , CM000685.1:g.48385664G>C | GRCh37 |
| NC_000023.9:g.48270608G>C | NCBI36 |
| NG_007452.1:g.10501G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.460G>C MANE Select | ENSP00000417052.1:p.Val154Leu | |
| ENST00000651615.1:c.460G>C | ENSP00000498524.1:p.Val154Leu | |
| ENST00000276096.10:n.418G>C | ||
| ENST00000446158.5:c.460G>C | ENSP00000390031.1:p.Val154Leu | |
| ENST00000466461.1:n.299G>C | ||
| ENST00000495186.5:c.460G>C | ENSP00000417052.1:p.Val154Leu | |
| ENST00000498425.1:n.581G>C | ||
| NM_006579.2:c.460G>C | NP_006570.1:p.Val154Leu | |
| NM_006579.3:c.460G>C MANE Select | NP_006570.1:p.Val154Leu |