Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912054A>G , CM000674.2:g.4912054A>G | GRCh38 |
| NC_000012.11:g.5021220A>G , CM000674.1:g.5021220A>G | GRCh37 |
| NC_000012.10:g.4891481A>G | NCBI36 |
| NG_011815.1:g.7148A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382545.5:c.676A>G MANE Select | ENSP00000371985.3:p.Thr226Ala | |
| ENST00000543874.3:n.105+1582A>G | ||
| ENST00000639306.1:c.514A>G | ENSP00000492506.1:p.Thr172Ala | |
| ENST00000382545.3:c.676A>G | ENSP00000371985.3:p.Thr226Ala | |
| ENST00000541095.1:n.105+1582A>G | ||
| ENST00000543874.2:n.96+1582A>G | ||
| NM_000217.2:c.676A>G | NP_000208.2:p.Thr226Ala | |
| NM_000217.3:c.676A>G MANE Select | NP_000208.2:p.Thr226Ala |