Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703188C>T , CM000677.2:g.66703188C>T | GRCh38 |
| NC_000015.9:g.66995526C>T , CM000677.1:g.66995526C>T | GRCh37 |
| NC_000015.8:g.64782580C>T | NCBI36 |
| NG_012244.1:g.5853C>T | |
| NG_012244.2:g.5853C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.-71C>T MANE Select | ENSP00000288840.5:n.-71C>T | |
| ENST00000288840.9:c.-71C>T | ENSP00000288840.5:n.-71C>T | |
| ENST00000612349.1:n.112C>T | ||
| NM_005585.4:c.-71C>T | NP_005576.3:n.-71C>T | |
| NR_027654.1:n.853C>T | ||
| XR_931825.1:n.1089C>T | ||
| XR_931826.1:n.1089C>T | ||
| XR_931827.1:n.1089C>T | ||
| XR_931827.2:n.1079C>T | ||
| NM_005585.5:c.-71C>T MANE Select | NP_005576.3:n.-71C>T | |
| NR_027654.2:n.953C>T |