Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.75562169T>C , CM000673.2:g.75562169T>C | GRCh38 |
| NC_000011.9:g.75273214T>C , CM000673.1:g.75273214T>C | GRCh37 |
| NC_000011.8:g.74950862T>C | NCBI36 |
| NG_012052.1:g.5045T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001207014.1:c.-229T>C | NP_001193943.1:n.-229T>C |
| NM_001235.3:c.-185T>C | NP_001226.2:n.-185T>C |
| ENST00000358171.7:c.-185T>C | ENSP00000350894.3:n.-185T>C |
| ENST00000526242.1:c.-185T>C | ENSP00000431384.1:n.-185T>C |
| ENST00000533603.5:c.-229T>C | ENSP00000434657.1:n.-229T>C |