Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911302A>C , CM000679.2:g.42911302A>C | GRCh38 |
| NC_000017.10:g.41063319A>C , CM000679.1:g.41063319A>C | GRCh37 |
| NC_000017.9:g.38316845A>C | NCBI36 |
| NG_011808.1:g.15505A>C , LRG_147:g.15505A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.950A>C MANE Select | ENSP00000253801.1:p.Gln317Pro | |
| ENST00000253801.6:c.950A>C | ENSP00000253801.1:p.Gln317Pro | |
| ENST00000585489.1:c.*342A>C | ENSP00000466202.1:n.*342A>C | |
| ENST00000592383.5:c.*342A>C | ENSP00000465958.1:n.*342A>C | |
| NM_000151.3:c.950A>C | NP_000142.2:p.Gln317Pro | |
| NM_001270397.1:c.*342A>C | NP_001257326.1:n.*342A>C | |
| NM_000151.4:c.950A>C MANE Select | NP_000142.2:p.Gln317Pro | |
| NM_001270397.2:c.*342A>C | NP_001257326.1:n.*342A>C |