Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651601T>G , CM000674.2:g.52651601T>G | GRCh38 |
| NC_000012.11:g.53045385T>G , CM000674.1:g.53045385T>G | GRCh37 |
| NC_000012.10:g.51331652T>G | NCBI36 |
| NG_008296.1:g.5575A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000423.3:c.542A>C MANE Select | NP_000414.2:p.Gln181Pro |
| ENST00000309680.4:c.542A>C MANE Select | ENSP00000310861.3:p.Gln181Pro |
| NM_000423.2:c.542A>C | NP_000414.2:p.Gln181Pro |
| ENST00000309680.3:c.542A>C | ENSP00000310861.3:p.Gln181Pro |