Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57352869G>A , CM000680.2:g.57352869G>A | GRCh38 |
| NC_000018.9:g.55020100G>A , CM000680.1:g.55020100G>A | GRCh37 |
| NC_000018.8:g.53171098G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015879.3:c.23G>A MANE Select | NP_056963.2:p.Arg8Gln |
| ENST00000324000.4:c.23G>A MANE Select | ENSP00000320431.2:p.Arg8Gln |
| NM_015879.2:c.23G>A | NP_056963.2:p.Arg8Gln |
| ENST00000324000.3:c.23G>A | ENSP00000320431.2:p.Arg8Gln |
| XM_011526019.1:c.23G>A | XP_011524321.1:p.Arg8Gln |