Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62620576T>G , CM000672.2:g.62620576T>G | GRCh38 |
| NC_000010.10:g.64380336T>G , CM000672.1:g.64380336T>G | GRCh37 |
| NC_000010.9:g.64050342T>G | NCBI36 |
| NG_021209.1:g.251421T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_199451.2:c.982-2527T>G | NP_955523.1:n.982-2527T>G |
| NM_199451.3:c.982-2527T>G | NP_955523.1:n.982-2527T>G |
| NM_199452.3:c.-184-23166T>G | NP_955524.3:n.-184-23166T>G |
| ENST00000395251.5:c.-184-23166T>G | ENSP00000378672.1:n.-184-23166T>G |
| ENST00000410046.7:c.982-2527T>G | ENSP00000387091.3:n.982-2527T>G |
| ENST00000647733.1:c.982-2527T>G | ENSP00000502188.1:n.982-2527T>G |