Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61332285G>C , CM000667.2:g.61332285G>C | GRCh38 |
| NC_000005.9:g.60628112G>C , CM000667.1:g.60628112G>C | GRCh37 |
| NC_000005.8:g.60663869G>C | NCBI36 |
| NG_053150.1:g.5013G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020928.2:c.13G>C MANE Select | NP_065979.1:p.Gly5Arg |
| ENST00000252744.6:c.13G>C MANE Select | ENSP00000252744.5:p.Gly5Arg |
| NM_020928.1:c.13G>C | NP_065979.1:p.Gly5Arg |
| ENST00000252744.5:c.13G>C | ENSP00000252744.5:p.Gly5Arg |