Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719343T>C , CM000667.2:g.71719343T>C | GRCh38 |
| NC_000005.9:g.71015170T>C , CM000667.1:g.71015170T>C | GRCh37 |
| NC_000005.8:g.71050926T>C | NCBI36 |
| NG_015988.1:g.5181T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.50T>C MANE Select | ENSP00000296777.4:p.Leu17Pro | |
| ENST00000296777.4:c.50T>C | ENSP00000296777.4:p.Leu17Pro | |
| NM_004291.3:c.50T>C | NP_004282.1:p.Leu17Pro | |
| NM_004291.4:c.50T>C MANE Select | NP_004282.1:p.Leu17Pro |