Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45234191C= , CM000680.2:g.45234191C= | GRCh38 |
| NC_000018.9:g.42814156C= , CM000680.1:g.42814156C= | GRCh37 |
| NC_000018.8:g.41068154C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001242692.1:c.-125+21000C= | NP_001229621.1:n.-125+21000C= |
| NM_001242692.2:c.-125+21000C= | NP_001229621.1:n.-125+21000C= |
| NM_001371319.1:c.-125+21000C= | NP_001358248.1:n.-125+21000C= |
| ENST00000586448.5:c.-125+21000C= | ENSP00000465953.1:n.-125+21000C= |
| XM_011526216.1:c.-251+21000C= | XP_011524518.1:n.-251+21000C= |
| XM_017026016.2:c.-125+21000C= | XP_016881505.1:n.-125+21000C= |
| XM_024451270.1:c.-125+21000C= | XP_024307038.1:n.-125+21000C= |
| XM_024451271.1:c.-125+21000C= | XP_024307039.1:n.-125+21000C= |