Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85587861C= , CM000664.2:g.85587861C= | GRCh38 |
| NC_000002.11:g.85814984C= , CM000664.1:g.85814984C= | GRCh37 |
| NC_000002.10:g.85668495C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306384.5:c.3+3368C= MANE Select | ENSP00000305647.4:n.3+3368C= | |
| ENST00000306384.4:c.3+3368C= | ENSP00000305647.4:n.3+3368C= | |
| NM_006634.2:c.3+3368C= | NP_006625.1:n.3+3368C= | |
| NM_006634.3:c.3+3368C= MANE Select | NP_006625.1:n.3+3368C= |