Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119651818C>A , CM000672.2:g.119651818C>A | GRCh38 |
| NC_000010.10:g.121411330C>A , CM000672.1:g.121411330C>A | GRCh37 |
| NC_000010.9:g.121401320C>A | NCBI36 |
| NG_016125.1:g.5449C>A , LRG_742:g.5449C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.143C>A MANE Select | ENSP00000358081.4:p.Thr48Lys | |
| ENST00000369085.7:c.143C>A | ENSP00000358081.3:p.Thr48Lys | |
| NM_004281.3:c.143C>A , LRG_742t1:c.143C>A | NP_004272.2:p.Thr48Lys | |
| XM_005270287.1:c.143C>A | XP_005270344.1:p.Thr48Lys | |
| XM_005270287.2:c.143C>A | XP_005270344.1:p.Thr48Lys | |
| NM_004281.4:c.143C>A MANE Select | NP_004272.2:p.Thr48Lys |