Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.55145189G>A , CM000676.2:g.55145189G>A | GRCh38 |
| NC_000014.8:g.55611907G>A , CM000676.1:g.55611907G>A | GRCh37 |
| NC_000014.7:g.54681660G>A | NCBI36 |
| NG_017089.1:g.20973G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002306.4:c.671G>A MANE Select | NP_002297.2:p.Arg224Gln |
| ENST00000254301.14:c.671G>A MANE Select | ENSP00000254301.9:p.Arg224Gln |
| NM_001177388.1:c.521-123G>A | NP_001170859.1:n.521-123G>A |
| NM_001357678.1:c.713G>A | NP_001344607.1:p.Arg238Gln |
| NM_001357678.2:c.713G>A | NP_001344607.1:p.Arg238Gln |
| NM_002306.3:c.671G>A | NP_002297.2:p.Arg224Gln |
| NR_003225.2:n.1715G>A | |
| ENST00000254301.13:c.671G>A | ENSP00000254301.9:p.Arg224Gln |
| ENST00000556438.6:n.1510G>A | |
| XM_011536759.1:c.671G>A | XP_011535061.1:p.Arg224Gln |