Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34303394G= , CM000682.2:g.34303394G= | GRCh38 |
| NC_000020.10:g.32891200G= , CM000682.1:g.32891200G= | GRCh37 |
| NC_000020.9:g.32354861G= | NCBI36 |
| NG_012630.1:g.13409C= | |
| NG_012630.2:g.13409C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000687.2:c.-124C= | NP_000678.1:n.-124C= |
| NM_000687.3:c.-124C= | NP_000678.1:n.-124C= |
| NM_001161766.1:c.-56-7809C= | NP_001155238.1:n.-56-7809C= |
| NM_001161766.2:c.-56-7809C= | NP_001155238.1:n.-56-7809C= |
| NM_001362750.1:c.-124C= | NP_001349679.1:n.-124C= |
| ENST00000538132.1:c.-56-7809C= | ENSP00000442820.1:n.-56-7809C= |
| XM_011528659.1:c.-56-7809C= | XP_011526961.1:n.-56-7809C= |