Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31010386C>T , CM000678.2:g.31010386C>T | GRCh38 |
| NC_000016.9:g.31021707C>T , CM000678.1:g.31021707C>T | GRCh37 |
| NC_000016.8:g.30929208C>T | NCBI36 |
| NG_041829.1:g.5123G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052874.5:c.11G>A MANE Select | NP_443106.1:p.Arg4Gln |
| ENST00000215095.11:c.11G>A MANE Select | ENSP00000215095.5:p.Arg4Gln |
| NM_052874.4:c.11G>A | NP_443106.1:p.Arg4Gln |
| ENST00000215095.9:c.11G>A | ENSP00000215095.5:p.Arg4Gln |
| ENST00000561836.1:n.117G>A | |
| ENST00000565419.1:c.11G>A | ENSP00000455899.1:p.Arg4Gln |
| ENST00000565419.2:c.11G>A | ENSP00000455899.1:p.Arg4Gln |