Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73136432C>T , CM000676.2:g.73136432C>T | GRCh38 |
| NC_000014.8:g.73603140C>T , CM000676.1:g.73603140C>T | GRCh37 |
| NC_000014.7:g.72672893C>T | NCBI36 |
| NG_007386.2:g.4962C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700265.1:c.-120C>T | ENSP00000514901.1:n.-120C>T | |
| ENST00000700266.1:c.-287C>T | ENSP00000514902.1:n.-287C>T | |
| ENST00000700267.1:c.-152C>T | ENSP00000514903.1:n.-152C>T | |
| ENST00000557356.5:c.-152C>T | ENSP00000451498.1:n.-152C>T |