Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40886441A>C , CM000684.2:g.40886441A>C | GRCh38 |
| NC_000022.10:g.41282445A>C , CM000684.1:g.41282445A>C | GRCh37 |
| NC_000022.9:g.39612391A>C | NCBI36 |
| NG_028221.1:g.34361A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357137.9:c.718A>C MANE Select | ENSP00000349658.4:p.Ile240Leu | |
| ENST00000357137.8:c.718A>C | ENSP00000349658.4:p.Ile240Leu | |
| ENST00000428799.1:c.*600A>C | ENSP00000394283.1:n.*600A>C | |
| NM_022098.3:c.718A>C | NP_071381.1:p.Ile240Leu | |
| NM_022098.4:c.718A>C MANE Select | NP_071381.1:p.Ile240Leu |