Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19952078A= , CM000670.2:g.19952078A= | GRCh38 |
| NC_000008.10:g.19809589A= , CM000670.1:g.19809589A= | GRCh37 |
| NC_000008.9:g.19853869A= | NCBI36 |
| NG_008855.1:g.18008A= | |
| NG_008855.2:g.55362A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.429+130A= MANE Select | ENSP00000497642.1:n.429+130A= | |
| ENST00000311322.8:c.429+130A= | ENSP00000309757.6:n.429+130A= | |
| ENST00000520959.5:c.201+130A= | ENSP00000428496.1:n.201+130A= | |
| NM_000237.2:c.429+130A= | NP_000228.1:n.429+130A= | |
| NM_000237.3:c.429+130A= MANE Select | NP_000228.1:n.429+130A= |