Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.73071865C>T , CM000670.2:g.73071865C>T | GRCh38 |
| NC_000008.10:g.73984100C>T , CM000670.1:g.73984100C>T | GRCh37 |
| NC_000008.9:g.74146654C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153225.4:c.415G>A MANE Select | NP_694957.3:p.Ala139Thr |
| ENST00000297354.7:c.415G>A MANE Select | ENSP00000297354.6:p.Ala139Thr |
| NM_153225.3:c.415G>A | NP_694957.3:p.Ala139Thr |
| ENST00000297354.6:c.415G>A | ENSP00000297354.6:p.Ala139Thr |
| ENST00000519697.1:n.783G>A | |
| XM_005251178.3:c.82G>A | XP_005251235.1:p.Ala28Thr |
| XM_011517475.1:c.*8G>A | XP_011515777.1:n.*8G>A |
| XM_017013145.1:c.229G>A | XP_016868634.1:p.Ala77Thr |
| XM_024447081.1:c.*8G>A | XP_024302849.1:n.*8G>A |
| XR_928762.1:n.698G>A | |
| XR_928762.2:n.687G>A |