Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781936A>T , CM000672.2:g.94781936A>T | GRCh38 |
| NC_000010.10:g.96541693A>T , CM000672.1:g.96541693A>T | GRCh37 |
| NC_000010.9:g.96531683A>T | NCBI36 |
| NG_008384.2:g.24231A>T | |
| NG_008384.3:g.24256A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.758A>T MANE Select | ENSP00000360372.3:p.Glu253Val | |
| ENST00000645461.1:n.1811A>T | ||
| ENST00000371321.7:c.758A>T | ENSP00000360372.3:p.Glu253Val | |
| ENST00000464755.1:c.1521A>T | ENSP00000483243.1:n.1521A>T | |
| NM_000769.2:c.758A>T | NP_000760.1:p.Glu253Val | |
| NM_000769.4:c.758A>T MANE Select | NP_000760.1:p.Glu253Val |