Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98187038C= , CM000669.2:g.98187038C= | GRCh38 |
| NC_000007.13:g.97816350C= , CM000669.1:g.97816350C= | GRCh37 |
| NC_000007.12:g.97654286C= | NCBI36 |
| NG_013375.1:g.85154C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297293.6:c.998+40C= MANE Select | ENSP00000297293.5:n.998+40C= | |
| ENST00000297293.5:c.998+40C= | ENSP00000297293.5:n.998+40C= | |
| NM_014916.3:c.998+40C= | NP_055731.2:n.998+40C= | |
| XM_011515981.1:c.992+40C= | XP_011514283.1:n.992+40C= | |
| XM_011515981.3:c.992+40C= | XP_011514283.1:n.992+40C= | |
| NM_014916.4:c.998+40C= MANE Select | NP_055731.2:n.998+40C= |