Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61872086C>T , CM000664.2:g.61872086C>T | GRCh38 |
| NC_000002.11:g.62099221C>T , CM000664.1:g.62099221C>T | GRCh37 |
| NC_000002.10:g.61952725C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006430.4:c.1487G>A MANE Select | NP_006421.2:p.Arg496Gln |
| ENST00000394440.8:c.1487G>A MANE Select | ENSP00000377958.3:p.Arg496Gln |
| NM_001256721.1:c.1397G>A | NP_001243650.1:p.Arg466Gln |
| NM_006430.3:c.1487G>A | NP_006421.2:p.Arg496Gln |
| ENST00000394440.7:c.1487G>A | ENSP00000377958.3:p.Arg496Gln |
| ENST00000461540.2:n.248-2533G>A | |
| ENST00000544079.2:c.1397G>A | ENSP00000443061.1:p.Arg466Gln |