Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451518G>T , CM000674.2:g.52451518G>T | GRCh38 |
| NC_000012.11:g.52845302G>T , CM000674.1:g.52845302G>T | GRCh37 |
| NC_000012.10:g.51131569G>T | NCBI36 |
| NG_008299.1:g.5609C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.540+21C>A MANE Select | ENSP00000252252.3:n.540+21C>A | |
| ENST00000252252.3:c.540+21C>A | ENSP00000252252.3:n.540+21C>A | |
| NM_005555.3:c.540+21C>A | NP_005546.2:n.540+21C>A | |
| NM_005555.4:c.540+21C>A MANE Select | NP_005546.2:n.540+21C>A |