Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33301374C>T , CM000681.2:g.33301374C>T | GRCh38 |
| NC_000019.9:g.33792280C>T , CM000681.1:g.33792280C>T | GRCh37 |
| NC_000019.8:g.38484120C>T | NCBI36 |
| NG_012022.1:g.6151G>A , LRG_456:g.6151G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004364.5:c.1041G>A MANE Select | NP_004355.2:p.Glu347= |
| ENST00000498907.3:c.1041G>A MANE Select | ENSP00000427514.1:p.Glu347= |
| NM_001285829.1:c.684G>A | NP_001272758.1:p.Glu228= |
| NM_001285829.2:c.684G>A | NP_001272758.1:p.Glu228= |
| NM_001287424.1:c.1146G>A | NP_001274353.1:p.Glu382= |
| NM_001287424.2:c.1146G>A | NP_001274353.1:p.Glu382= |
| NM_001287435.1:c.999G>A | NP_001274364.1:p.Glu333= |
| NM_001287435.2:c.999G>A | NP_001274364.1:p.Glu333= |
| NM_004364.4:c.1041G>A | NP_004355.2:p.Glu347= |
| ENST00000498907.2:c.1041G>A | ENSP00000427514.1:p.Glu347= |