Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147857715C= , CM000669.2:g.147857715C= | GRCh38 |
| NC_000007.13:g.147554807C= , CM000669.1:g.147554807C= | GRCh37 |
| NC_000007.12:g.147185740C= | NCBI36 |
| NG_007092.2:g.1746355C= | |
| NG_007092.3:g.1746715C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.2099-45850C= MANE Select | NP_054860.1:n.2099-45850C= |
| ENST00000361727.8:c.2099-45850C= MANE Select | ENSP00000354778.3:n.2099-45850C= |
| NM_014141.5:c.2099-45850C= | NP_054860.1:n.2099-45850C= |
| ENST00000361727.7:c.2099-45850C= | ENSP00000354778.3:n.2099-45850C= |
| ENST00000455301.2:n.34-45850C= | |
| ENST00000627772.2:n.272-45850C= | |
| ENST00000636870.1:n.1961-45850C= | |
| ENST00000637825.1:n.1582-45850C= | |
| XM_006715919.1:c.587-45850C= | XP_006715982.1:n.587-45850C= |