Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956643T>G , CM000670.2:g.24956643T>G | GRCh38 |
| NC_000008.10:g.24814157T>G , CM000670.1:g.24814157T>G | GRCh37 |
| NC_000008.9:g.24870074T>G | NCBI36 |
| NG_008492.1:g.4975A>C , LRG_259:g.4975A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.1:c.-128A>C | ENSP00000482169.1:n.-128A>C | |
| ENST00000615973.1:n.79A>C | ||
| NM_006158.4:c.-128A>C , LRG_259t1:c.-128A>C | NP_006149.2:n.-128A>C |