Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40929862G>C , CM000677.2:g.40929862G>C | GRCh38 |
| NC_000015.9:g.41222060G>C , CM000677.1:g.41222060G>C | GRCh37 |
| NC_000015.8:g.39009352G>C | NCBI36 |
| NG_046974.1:g.5530G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019074.4:c.82G>C MANE Select | NP_061947.1:p.Gly28Arg |
| ENST00000249749.7:c.82G>C MANE Select | ENSP00000249749.5:p.Gly28Arg |
| NM_019074.3:c.82G>C | NP_061947.1:p.Gly28Arg |
| ENST00000249749.6:c.82G>C | ENSP00000249749.5:p.Gly28Arg |
| ENST00000557876.1:n.411G>C |