Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32822435C= , CM000682.2:g.32822435C= | GRCh38 |
| NC_000020.10:g.31410241C= , CM000682.1:g.31410241C= | GRCh37 |
| NC_000020.9:g.30873902C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375571.6:c.-4+2407C= MANE Select | ENSP00000364721.5:n.-4+2407C= | |
| ENST00000375571.5:c.-4+2407C= | ENSP00000364721.5:n.-4+2407C= | |
| NM_012325.2:c.-4+2407C= | NP_036457.1:n.-4+2407C= | |
| XM_011528696.1:c.-4+2518C= | XP_011526998.1:n.-4+2518C= | |
| XM_011528696.2:c.-4+2518C= | XP_011526998.1:n.-4+2518C= | |
| NM_012325.3:c.-4+2407C= MANE Select | NP_036457.1:n.-4+2407C= |