Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150696868C>T , CM000667.2:g.150696868C>T | GRCh38 |
| NC_000005.9:g.150076430C>T , CM000667.1:g.150076430C>T | GRCh37 |
| NC_000005.8:g.150056623C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199814.9:c.295G>A MANE Select | ENSP00000199814.4:p.Ala99Thr | |
| ENST00000199814.8:c.295G>A | ENSP00000199814.4:p.Ala99Thr | |
| ENST00000447771.6:c.148G>A | ENSP00000412118.2:p.Ala50Thr | |
| ENST00000518917.5:c.274G>A | ENSP00000428154.1:p.Ala92Thr | |
| ENST00000521248.5:n.387G>A | ||
| ENST00000521464.1:c.652G>A | ENSP00000430946.1:p.Ala218Thr | |
| ENST00000521594.1:n.365G>A | ||
| ENST00000522469.5:n.356G>A | ||
| NM_018047.2:c.295G>A | NP_060517.1:p.Ala99Thr | |
| XR_001742145.2:n.399G>A | ||
| NM_018047.3:c.295G>A MANE Select | NP_060517.1:p.Ala99Thr |