Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189034094T>A , CM000664.2:g.189034094T>A | GRCh38 |
| NC_000002.11:g.189898820T>A , CM000664.1:g.189898820T>A | GRCh37 |
| NC_000002.10:g.189607065T>A | NCBI36 |
| NG_011799.1:g.150786A>T | |
| NG_011799.2:g.150786A>T | |
| NG_011799.3:g.196208A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.4476A>T MANE Select | NP_000384.2:p.Glu1492Asp |
| ENST00000374866.9:c.4476A>T MANE Select | ENSP00000364000.3:p.Glu1492Asp |
| NM_000393.3:c.4476A>T | NP_000384.2:p.Glu1492Asp |
| NM_000393.4:c.4476A>T | NP_000384.2:p.Glu1492Asp |
| ENST00000374866.7:c.4476A>T | ENSP00000364000.3:p.Glu1492Asp |
| ENST00000618828.1:c.3315A>T | ENSP00000482184.1:p.Glu1105Asp |
| XM_011510573.1:c.4338A>T | XP_011508875.1:p.Glu1446Asp |
| XM_011510573.3:c.4338A>T | XP_011508875.1:p.Glu1446Asp |