Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940411G>T , CM000678.2:g.67940411G>T | GRCh38 |
| NC_000016.9:g.67974314G>T , CM000678.1:g.67974314G>T | GRCh37 |
| NC_000016.8:g.66531815G>T | NCBI36 |
| NG_009778.1:g.8702C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.816C>A MANE Select | ENSP00000264005.5:p.Thr272= | |
| ENST00000264005.9:c.816C>A | ENSP00000264005.5:p.Thr272= | |
| ENST00000570369.5:c.156-337C>A | ||
| ENST00000570980.1:c.600C>A | ENSP00000464651.1:p.Thr200= | |
| ENST00000573538.5:c.554C>A | ENSP00000463220.1:n.554C>A | |
| NM_000229.1:c.816C>A | NP_000220.1:p.Thr272= | |
| NM_000229.2:c.816C>A MANE Select | NP_000220.1:p.Thr272= |