Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10960935C= , CM000681.2:g.10960935C= | GRCh38 |
| NC_000019.9:g.11071611C= , CM000681.1:g.11071611C= | GRCh37 |
| NC_000019.8:g.10932611C= | NCBI36 |
| NG_011556.2:g.5014C= | |
| NG_011556.3:g.5004C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642726.1:c.-268C= | ENSP00000494353.1:n.-268C= | |
| ENST00000643549.1:c.-268C= | ENSP00000493975.1:n.-268C= | |
| ENST00000644737.1:c.-268C= | ENSP00000495548.1:n.-268C= | |
| ENST00000646484.1:c.-268C= | ENSP00000495536.1:n.-268C= | |
| ENST00000646693.1:c.-268C= | ENSP00000495368.1:n.-268C= | |
| NM_001128844.1:c.-347C= | NP_001122316.1:n.-347C= | |
| NM_003072.3:c.-271C= | NP_003063.2:n.-271C= |