Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155811821A= , CM000669.2:g.155811821A= | GRCh38 |
| NC_000007.13:g.155604515A= , CM000669.1:g.155604515A= | GRCh37 |
| NC_000007.12:g.155297276A= | NCBI36 |
| NG_007504.2:g.5453T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.300+2T= MANE Select | ENSP00000297261.2:n.300+2T= | |
| ENST00000297261.6:c.300+2T= | ENSP00000297261.2:n.300+2T= | |
| NM_000193.2:c.300+2T= | NP_000184.1:n.300+2T= | |
| NM_000193.3:c.300+2T= | NP_000184.1:n.300+2T= | |
| NM_000193.4:c.300+2T= MANE Select | NP_000184.1:n.300+2T= |