Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004052C= , CM000681.2:g.47004052C= | GRCh38 |
| NC_000019.9:g.47507309C= , CM000681.1:g.47507309C= | GRCh37 |
| NC_000019.8:g.52199149C= | NCBI36 |
| NG_047014.1:g.90486C= | |
| NG_047014.2:g.148056C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7864C= | ENSP00000385720.2:n.7864C= | |
| ENST00000672722.1:c.*3364C= MANE Select | ENSP00000500409.1:n.*3364C= | |
| ENST00000404338.7:c.7864C= | ENSP00000385720.2:n.7864C= | |
| ENST00000614079.1:c.7441C= | ENSP00000483730.1:n.7441C= | |
| NM_004491.4:c.7864C= | NP_004482.4:n.7864C= | |
| NM_004491.5:c.*3364C= MANE Select | NP_004482.4:n.*3364C= |