Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703206C>T , CM000677.2:g.66703206C>T | GRCh38 |
| NC_000015.9:g.66995544C>T , CM000677.1:g.66995544C>T | GRCh37 |
| NC_000015.8:g.64782598C>T | NCBI36 |
| NG_012244.1:g.5871C>T | |
| NG_012244.2:g.5871C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.-53C>T MANE Select | ENSP00000288840.5:n.-53C>T | |
| ENST00000288840.9:c.-53C>T | ENSP00000288840.5:n.-53C>T | |
| ENST00000612349.1:n.130C>T | ||
| NM_005585.4:c.-53C>T | NP_005576.3:n.-53C>T | |
| NR_027654.1:n.871C>T | ||
| XR_931825.1:n.1107C>T | ||
| XR_931826.1:n.1107C>T | ||
| XR_931827.1:n.1107C>T | ||
| XR_931827.2:n.1097C>T | ||
| NM_005585.5:c.-53C>T MANE Select | NP_005576.3:n.-53C>T | |
| NR_027654.2:n.971C>T |