Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2865537C= , CM000680.2:g.2865537C= | GRCh38 |
| NC_000018.9:g.2865535C= , CM000680.1:g.2865535C= | GRCh37 |
| NC_000018.8:g.2855535C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254528.4:c.257+17606C= MANE Select | ENSP00000254528.3:n.257+17606C= | |
| ENST00000254528.3:c.257+17606C= | ENSP00000254528.3:n.257+17606C= | |
| NM_032048.2:c.257+17606C= | NP_114437.2:n.257+17606C= | |
| XM_011525747.1:c.380+17606C= | XP_011524049.1:n.380+17606C= | |
| XM_011525748.1:c.380+17606C= | XP_011524050.1:n.380+17606C= | |
| XR_935070.1:n.699+17606C= | ||
| XM_017026038.2:c.257+17606C= | XP_016881527.1:n.257+17606C= | |
| NM_032048.3:c.257+17606C= MANE Select | NP_114437.2:n.257+17606C= |