Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119676794G= , CM000672.2:g.119676794G= | GRCh38 |
| NC_000010.10:g.121436306G= , CM000672.1:g.121436306G= | GRCh37 |
| NC_000010.9:g.121426296G= | NCBI36 |
| NG_016125.1:g.30425G= , LRG_742:g.30425G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004281.4:c.1240G= MANE Select | NP_004272.2:p.Glu414= |
| ENST00000369085.8:c.1240G= MANE Select | ENSP00000358081.4:p.Glu414= |
| NM_004281.3:c.1240G= , LRG_742t1:c.1240G= | NP_004272.2:p.Glu414= |
| ENST00000369085.7:c.1240G= | ENSP00000358081.3:p.Glu414= |
| XM_005270287.1:c.1237G= | XP_005270344.1:p.Glu413= |
| XM_005270287.2:c.1237G= | XP_005270344.1:p.Glu413= |