Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433732C>T , CM000674.2:g.52433732C>T | GRCh38 |
| NC_000012.11:g.52827516C>T , CM000674.1:g.52827516C>T | GRCh37 |
| NC_000012.10:g.51113783C>T | NCBI36 |
| NG_008403.1:g.5595G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.498+75G>A MANE Select | ENSP00000252245.5:n.498+75G>A | |
| ENST00000252245.5:c.498+75G>A | ENSP00000252245.5:n.498+75G>A | |
| NM_004693.2:c.498+75G>A | NP_004684.2:n.498+75G>A | |
| NM_004693.3:c.498+75G>A MANE Select | NP_004684.2:n.498+75G>A |