Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43551612C>A , CM000681.2:g.43551612C>A | GRCh38 |
| NC_000019.9:g.44055764C>A , CM000681.1:g.44055764C>A | GRCh37 |
| NC_000019.8:g.48747604C>A | NCBI36 |
| NG_033799.1:g.28967G>T , LRG_784:g.28967G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.1158G>T MANE Select | ENSP00000262887.5:p.Val386= | |
| ENST00000262887.9:c.1158G>T | ENSP00000262887.4:p.Val386= | |
| ENST00000543982.5:c.1065G>T | ENSP00000443671.1:p.Val355= | |
| ENST00000597811.5:c.768G>T | ||
| NM_006297.2:c.1158G>T , LRG_784t1:c.1158G>T | NP_006288.2:p.Val386= | |
| NM_006297.3:c.1158G>T MANE Select | NP_006288.2:p.Val386= |