Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112226389C>T , CM000673.2:g.112226389C>T | GRCh38 |
| NC_000011.9:g.112097112C>T , CM000673.1:g.112097112C>T | GRCh37 |
| NC_000011.8:g.111602322C>T | NCBI36 |
| NG_008743.1:g.5025C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280362.7:c.-55C>T | ENSP00000280362.3:n.-55C>T | |
| ENST00000525645.1:n.21C>T | ||
| ENST00000528679.5:c.-55C>T | ENSP00000435895.1:n.-55C>T | |
| ENST00000531673.5:c.-55C>T | ENSP00000433469.1:n.-55C>T | |
| NM_000317.2:c.-55C>T | NP_000308.1:n.-55C>T |