Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719412T>C , CM000667.2:g.71719412T>C | GRCh38 |
| NC_000005.9:g.71015239T>C , CM000667.1:g.71015239T>C | GRCh37 |
| NC_000005.8:g.71050995T>C | NCBI36 |
| NG_015988.1:g.5250T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.119T>C MANE Select | ENSP00000296777.4:p.Ile40Thr | |
| ENST00000296777.4:c.119T>C | ENSP00000296777.4:p.Ile40Thr | |
| NM_004291.3:c.119T>C | NP_004282.1:p.Ile40Thr | |
| NM_004291.4:c.119T>C MANE Select | NP_004282.1:p.Ile40Thr |