Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.70579486A>C , CM000668.2:g.70579486A>C | GRCh38 |
| NC_000006.11:g.71289189A>C , CM000668.1:g.71289189A>C | GRCh37 |
| NC_000006.10:g.71345910A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145267.3:c.137A>C MANE Select | NP_660310.2:p.Gln46Pro |
| ENST00000370474.4:c.137A>C MANE Select | ENSP00000359505.3:p.Gln46Pro |
| NM_145267.2:c.137A>C | NP_660310.2:p.Gln46Pro |
| ENST00000370474.3:c.137A>C | ENSP00000359505.3:p.Gln46Pro |