Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259720C>T , CM000676.2:g.24259720C>T | GRCh38 |
| NC_000014.8:g.24728926C>T , CM000676.1:g.24728926C>T | GRCh37 |
| NC_000014.7:g.23798766C>T | NCBI36 |
| NG_007150.1:g.8447G>A | |
| NG_007150.2:g.8447G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000359.3:c.968G>A MANE Select | NP_000350.1:p.Arg323Gln |
| ENST00000206765.11:c.968G>A MANE Select | ENSP00000206765.6:p.Arg323Gln |
| NM_000359.2:c.968G>A | NP_000350.1:p.Arg323Gln |
| ENST00000206765.10:c.968G>A | ENSP00000206765.6:p.Arg323Gln |
| ENST00000544573.5:c.-28-1332G>A | ENSP00000439446.1:n.-28-1332G>A |
| ENST00000559136.1:c.41G>A | ENSP00000453337.1:p.Arg14Gln |