Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119651412G>A , CM000672.2:g.119651412G>A | GRCh38 |
| NC_000010.10:g.121410924G>A , CM000672.1:g.121410924G>A | GRCh37 |
| NC_000010.9:g.121400914G>A | NCBI36 |
| NG_016125.1:g.5043G>A , LRG_742:g.5043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.-264G>A MANE Select | ENSP00000358081.4:n.-264G>A | |
| ENST00000369085.7:c.-264G>A | ENSP00000358081.3:n.-264G>A | |
| NM_004281.3:c.-264G>A , LRG_742t1:c.-264G>A | NP_004272.2:n.-264G>A | |
| XM_005270287.1:c.-264G>A | XP_005270344.1:n.-264G>A | |
| XM_005270287.2:c.-264G>A | XP_005270344.1:n.-264G>A | |
| NM_004281.4:c.-264G>A MANE Select | NP_004272.2:n.-264G>A |