Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10547590C>T , CM000678.2:g.10547590C>T | GRCh38 |
| NC_000016.9:g.10641447C>T , CM000678.1:g.10641447C>T | GRCh37 |
| NC_000016.8:g.10548948C>T | NCBI36 |
| NG_042058.1:g.38127G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001424.6:c.28G>A MANE Select | NP_001415.1:p.Ala10Thr |
| ENST00000359543.8:c.28G>A MANE Select | ENSP00000352540.3:p.Ala10Thr |
| NM_001424.4:c.28G>A | NP_001415.1:p.Ala10Thr |
| NM_001424.5:c.28G>A | NP_001415.1:p.Ala10Thr |
| ENST00000342147.4:n.172G>A | |
| ENST00000359543.7:c.28G>A | ENSP00000352540.3:p.Ala10Thr |
| ENST00000536829.1:c.28G>A | ENSP00000445712.1:p.Ala10Thr |
| XM_006720864.2:c.28G>A | XP_006720927.1:p.Ala10Thr |
| XM_006720864.3:c.28G>A | XP_006720927.1:p.Ala10Thr |