Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147882611C= , CM000669.2:g.147882611C= | GRCh38 |
| NC_000007.13:g.147579703C= , CM000669.1:g.147579703C= | GRCh37 |
| NC_000007.12:g.147210636C= | NCBI36 |
| NG_007092.2:g.1771251C= | |
| NG_007092.3:g.1771611C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.2099-20954C= MANE Select | ENSP00000354778.3:n.2099-20954C= | |
| ENST00000636870.1:n.1961-20954C= | ||
| ENST00000637825.1:n.1582-20954C= | ||
| ENST00000361727.7:c.2099-20954C= | ENSP00000354778.3:n.2099-20954C= | |
| ENST00000455301.2:n.34-20954C= | ||
| ENST00000627772.2:n.272-20954C= | ||
| NM_014141.5:c.2099-20954C= | NP_054860.1:n.2099-20954C= | |
| XM_006715919.1:c.587-20954C= | XP_006715982.1:n.587-20954C= | |
| NM_014141.6:c.2099-20954C= MANE Select | NP_054860.1:n.2099-20954C= |