Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48980630G>C , CM000674.2:g.48980630G>C | GRCh38 |
| NC_000012.11:g.49374413G>C , CM000674.1:g.49374413G>C | GRCh37 |
| NC_000012.10:g.47660680G>C | NCBI36 |
| NG_033141.1:g.7178G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005430.4:c.565G>C MANE Select | NP_005421.1:p.Glu189Gln |
| ENST00000293549.4:c.565G>C MANE Select | ENSP00000293549.3:p.Glu189Gln |
| NM_005430.3:c.565G>C | NP_005421.1:p.Glu189Gln |
| ENST00000293549.3:c.565G>C | ENSP00000293549.3:p.Glu189Gln |
| ENST00000613114.4:c.565G>C | ENSP00000481240.1:p.Glu189Gln |