Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57204088G>A , CM000674.2:g.57204088G>A | GRCh38 |
| NC_000012.11:g.57597871G>A , CM000674.1:g.57597871G>A | GRCh37 |
| NC_000012.10:g.55884138G>A | NCBI36 |
| NG_016444.1:g.80590G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002332.3:c.10952-322G>A MANE Select | NP_002323.2:n.10952-322G>A |
| ENST00000243077.8:c.10952-322G>A MANE Select | ENSP00000243077.3:n.10952-322G>A |
| NM_002332.2:c.10952-322G>A | NP_002323.2:n.10952-322G>A |
| ENST00000243077.7:c.10952-322G>A | ENSP00000243077.3:n.10952-322G>A |
| ENST00000451724.6:n.179-322G>A | |
| ENST00000556356.1:n.471G>A | |
| XM_017019303.1:c.11003-322G>A | XP_016874792.1:n.11003-322G>A |