Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91107556C>T , CM000674.2:g.91107556C>T | GRCh38 |
| NC_000012.11:g.91501333C>T , CM000674.1:g.91501333C>T | GRCh37 |
| NC_000012.10:g.90025464C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.5:c.862+562G>A MANE Select | ENSP00000266718.4:n.862+562G>A | |
| ENST00000266718.4:c.862+562G>A | ENSP00000266718.4:n.862+562G>A | |
| ENST00000546642.1:n.612+562G>A | ||
| ENST00000548071.1:n.255+562G>A | ||
| NM_002345.3:c.862+562G>A | NP_002336.1:n.862+562G>A | |
| NM_002345.4:c.862+562G>A MANE Select | NP_002336.1:n.862+562G>A |