Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451491G= , CM000674.2:g.52451491G= | GRCh38 |
| NC_000012.11:g.52845275G= , CM000674.1:g.52845275G= | GRCh37 |
| NC_000012.10:g.51131542G= | NCBI36 |
| NG_008299.1:g.5636C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.540+48C= MANE Select | ENSP00000252252.3:n.540+48C= | |
| ENST00000252252.3:c.540+48C= | ENSP00000252252.3:n.540+48C= | |
| NM_005555.3:c.540+48C= | NP_005546.2:n.540+48C= | |
| NM_005555.4:c.540+48C= MANE Select | NP_005546.2:n.540+48C= |