Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114042T>C , CM000667.2:g.140114042T>C | GRCh38 |
| NC_000005.9:g.139493627T>C , CM000667.1:g.139493627T>C | GRCh37 |
| NC_000005.8:g.139473811T>C | NCBI36 |
| NG_041813.1:g.4920T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505703.2:c.-140T>C | ENSP00000498560.1:n.-140T>C | |
| ENST00000651386.1:c.-140T>C | ENSP00000499133.1:n.-140T>C | |
| ENST00000502351.1:n.284T>C | ||
| ENST00000505703.1:n.326T>C |