Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151400169A>C , CM000663.2:g.151400169A>C | GRCh38 |
| NC_000001.10:g.151372645A>C , CM000663.1:g.151372645A>C | GRCh37 |
| NC_000001.9:g.149639269A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290541.7:c.329A>C MANE Select | ENSP00000290541.6:p.Gln110Pro | |
| ENST00000290541.6:c.329A>C | ENSP00000290541.6:p.Gln110Pro | |
| ENST00000476467.1:n.330A>C | ||
| ENST00000493673.1:n.327A>C | ||
| ENST00000495288.5:n.357A>C | ||
| ENST00000495805.5:n.338A>C | ||
| NM_002796.2:c.329A>C | NP_002787.2:p.Gln110Pro | |
| NM_002796.3:c.329A>C MANE Select | NP_002787.2:p.Gln110Pro |