Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148826877G>A , CM000667.2:g.148826877G>A | GRCh38 |
| NC_000005.9:g.148206440G>A , CM000667.1:g.148206440G>A | GRCh37 |
| NC_000005.8:g.148186633G>A | NCBI36 |
| NG_016421.2:g.5285G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000024.6:c.46G>A MANE Select | NP_000015.2:p.Gly16Arg |
| ENST00000305988.6:c.46G>A MANE Select | ENSP00000305372.4:p.Gly16Arg |
| ENST00000305988.5:c.46G>A | ENSP00000305372.4:p.Gly16Arg |