Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27368475C>T , CM000673.2:g.27368475C>T | GRCh38 |
| NC_000011.9:g.27390022C>T , CM000673.1:g.27390022C>T | GRCh37 |
| NC_000011.8:g.27346598C>T | NCBI36 |
| NG_051818.1:g.109301G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379214.9:c.2248G>A MANE Select | ENSP00000368516.4:p.Ala750Thr | |
| ENST00000379214.8:c.2248G>A | ENSP00000368516.4:p.Ala750Thr | |
| ENST00000389858.4:c.2176G>A | ENSP00000374508.4:p.Ala726Thr | |
| NM_018490.2:c.2248G>A | NP_060960.2:p.Ala750Thr | |
| NM_001346432.1:c.2176G>A | NP_001333361.1:p.Ala726Thr | |
| NM_018490.3:c.2248G>A | NP_060960.2:p.Ala750Thr | |
| NM_018490.4:c.2248G>A | NP_060960.2:p.Ala750Thr | |
| NM_018490.5:c.2248G>A MANE Select | NP_060960.2:p.Ala750Thr | |
| NM_001346432.2:c.2176G>A | NP_001333361.1:p.Ala726Thr |