Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.89351871C>T , CM000674.2:g.89351871C>T | GRCh38 |
| NC_000012.11:g.89745648C>T , CM000674.1:g.89745648C>T | GRCh37 |
| NC_000012.10:g.88269779C>T | NCBI36 |
| NG_033915.1:g.5989G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001946.4:c.169G>A MANE Select | NP_001937.2:p.Ala57Thr |
| ENST00000279488.8:c.169G>A MANE Select | ENSP00000279488.6:p.Ala57Thr |
| NM_001946.3:c.169G>A | NP_001937.2:p.Ala57Thr |
| NM_022652.3:c.169G>A | NP_073143.2:p.Ala57Thr |
| NM_022652.4:c.169G>A | NP_073143.2:p.Ala57Thr |
| ENST00000279488.7:c.169G>A | ENSP00000279488.6:p.Ala57Thr |
| ENST00000308385.6:c.169G>A | ENSP00000307835.6:p.Ala57Thr |
| ENST00000548755.1:c.169G>A | ENSP00000446858.1:p.Ala57Thr |