Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189079097C>T , CM000664.2:g.189079097C>T | GRCh38 |
| NC_000002.11:g.189943823C>T , CM000664.1:g.189943823C>T | GRCh37 |
| NC_000002.10:g.189652068C>T | NCBI36 |
| NG_011799.1:g.105783G>A | |
| NG_011799.2:g.105783G>A | |
| NG_011799.3:g.151205G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.971G>A MANE Select | NP_000384.2:p.Gly324Asp |
| ENST00000374866.9:c.971G>A MANE Select | ENSP00000364000.3:p.Gly324Asp |
| NM_000393.3:c.971G>A | NP_000384.2:p.Gly324Asp |
| NM_000393.4:c.971G>A | NP_000384.2:p.Gly324Asp |
| ENST00000374866.7:c.971G>A | ENSP00000364000.3:p.Gly324Asp |
| ENST00000618828.1:c.341G>A | ENSP00000482184.1:p.Gly114Asp |
| XM_011510573.1:c.833G>A | XP_011508875.1:p.Gly278Asp |
| XM_011510573.3:c.833G>A | XP_011508875.1:p.Gly278Asp |