Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956754T>G , CM000670.2:g.24956754T>G | GRCh38 |
| NC_000008.10:g.24814268T>G , CM000670.1:g.24814268T>G | GRCh37 |
| NC_000008.9:g.24870185T>G | NCBI36 |
| NG_008492.1:g.4864A>C , LRG_259:g.4864A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.1:c.-239A>C | ENSP00000482169.1:n.-239A>C | |
| NM_006158.4:c.-239A>C , LRG_259t1:c.-239A>C | NP_006149.2:n.-239A>C |