Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242701C>A , CM000684.2:g.20242701C>A | GRCh38 |
| NC_000022.10:g.20230224C>A , CM000684.1:g.20230224C>A | GRCh37 |
| NC_000022.9:g.18610224C>A | NCBI36 |
| NG_012176.1:g.30593G>T | |
| NG_012176.2:g.30593G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000043402.8:c.432G>T MANE Select | ENSP00000043402.7:p.Glu144Asp | |
| ENST00000043402.7:c.432G>T | ENSP00000043402.7:p.Glu144Asp | |
| ENST00000416372.5:c.491G>T | ||
| ENST00000425986.1:c.689G>T | ||
| ENST00000469601.1:n.568G>T | ||
| NM_023004.5:c.432G>T | NP_075380.1:p.Glu144Asp | |
| NM_023004.6:c.432G>T MANE Select | NP_075380.1:p.Glu144Asp |