Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951996C= , CM000670.2:g.19951996C= | GRCh38 |
| NC_000008.10:g.19809507C= , CM000670.1:g.19809507C= | GRCh37 |
| NC_000008.9:g.19853787C= | NCBI36 |
| NG_008855.1:g.17926C= | |
| NG_008855.2:g.55280C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.429+48C= MANE Select | ENSP00000497642.1:n.429+48C= | |
| ENST00000311322.8:c.429+48C= | ENSP00000309757.6:n.429+48C= | |
| ENST00000520959.5:c.201+48C= | ENSP00000428496.1:n.201+48C= | |
| NM_000237.2:c.429+48C= | NP_000228.1:n.429+48C= | |
| NM_000237.3:c.429+48C= MANE Select | NP_000228.1:n.429+48C= |