Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62856017C>T , CM000673.2:g.62856017C>T | GRCh38 |
| NC_000011.9:g.62623489C>T , CM000673.1:g.62623489C>T | GRCh37 |
| NC_000011.8:g.62380065C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680002.1:c.-253C>T | ENSP00000506366.1:n.-253C>T | |
| ENST00000680729.1:c.-253C>T | ENSP00000505639.1:n.-253C>T | |
| NM_001012662.2:c.-253C>T | NP_001012680.1:n.-253C>T | |
| NM_001012664.2:c.-253C>T | NP_001012682.1:n.-253C>T | |
| NM_002394.5:c.-253C>T | NP_002385.3:n.-253C>T |