Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719325T>C , CM000667.2:g.71719325T>C | GRCh38 |
| NC_000005.9:g.71015152T>C , CM000667.1:g.71015152T>C | GRCh37 |
| NC_000005.8:g.71050908T>C | NCBI36 |
| NG_015988.1:g.5163T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.32T>C MANE Select | ENSP00000296777.4:p.Leu11Pro | |
| ENST00000296777.4:c.32T>C | ENSP00000296777.4:p.Leu11Pro | |
| NM_004291.3:c.32T>C | NP_004282.1:p.Leu11Pro | |
| NM_004291.4:c.32T>C MANE Select | NP_004282.1:p.Leu11Pro |