Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703239C= , CM000677.2:g.66703239C= | GRCh38 |
| NC_000015.9:g.66995577C= , CM000677.1:g.66995577C= | GRCh37 |
| NC_000015.8:g.64782631C= | NCBI36 |
| NG_012244.1:g.5904C= | |
| NG_012244.2:g.5904C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.-20C= MANE Select | ENSP00000288840.5:n.-20C= | |
| ENST00000288840.9:c.-20C= | ENSP00000288840.5:n.-20C= | |
| ENST00000612349.1:n.163C= | ||
| NM_005585.4:c.-20C= | NP_005576.3:n.-20C= | |
| NR_027654.1:n.904C= | ||
| XR_931825.1:n.1140C= | ||
| XR_931826.1:n.1140C= | ||
| XR_931827.1:n.1140C= | ||
| XR_931827.2:n.1130C= | ||
| NM_005585.5:c.-20C= MANE Select | NP_005576.3:n.-20C= | |
| NR_027654.2:n.1004C= |