Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956741A>G , CM000670.2:g.24956741A>G | GRCh38 |
| NC_000008.10:g.24814255A>G , CM000670.1:g.24814255A>G | GRCh37 |
| NC_000008.9:g.24870172A>G | NCBI36 |
| NG_008492.1:g.4877T>C , LRG_259:g.4877T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.1:c.-226T>C | ENSP00000482169.1:n.-226T>C | |
| NM_006158.4:c.-226T>C , LRG_259t1:c.-226T>C | NP_006149.2:n.-226T>C |