Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651585G>C , CM000674.2:g.52651585G>C | GRCh38 |
| NC_000012.11:g.53045369G>C , CM000674.1:g.53045369G>C | GRCh37 |
| NC_000012.10:g.51331636G>C | NCBI36 |
| NG_008296.1:g.5591C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000423.3:c.558C>G MANE Select | NP_000414.2:p.Asn186Lys |
| ENST00000309680.4:c.558C>G MANE Select | ENSP00000310861.3:p.Asn186Lys |
| NM_000423.2:c.558C>G | NP_000414.2:p.Asn186Lys |
| ENST00000309680.3:c.558C>G | ENSP00000310861.3:p.Asn186Lys |