Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981281G>C , CM000674.2:g.48981281G>C | GRCh38 |
| NC_000012.11:g.49375064G>C , CM000674.1:g.49375064G>C | GRCh37 |
| NC_000012.10:g.47661331G>C | NCBI36 |
| NG_033141.1:g.7829G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005430.4:c.754G>C MANE Select | NP_005421.1:p.Gly252Arg |
| ENST00000293549.4:c.754G>C MANE Select | ENSP00000293549.3:p.Gly252Arg |
| NM_005430.3:c.754G>C | NP_005421.1:p.Gly252Arg |
| ENST00000293549.3:c.754G>C | ENSP00000293549.3:p.Gly252Arg |
| ENST00000613114.4:c.754G>C | ENSP00000481240.1:p.Gly252Arg |