Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20454796A= , CM000676.2:g.20454796A= | GRCh38 |
| NC_000014.8:g.20922955A= , CM000676.1:g.20922955A= | GRCh37 |
| NC_000014.7:g.19992795A= | NCBI36 |
| NG_008718.1:g.4666A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.9:c.-113T= MANE Select | ENSP00000206542.4:n.-113T= | |
| ENST00000206542.8:c.-113T= | ENSP00000206542.4:n.-113T= | |
| ENST00000553640.3:c.-113T= | ENSP00000451580.1:n.-113T= | |
| ENST00000556252.1:n.258T= | ||
| ENST00000556439.1:n.294T= | ||
| NM_017807.3:c.-113T= | NP_060277.1:n.-113T= | |
| XM_011536930.1:c.-174T= | XP_011535232.1:n.-174T= | |
| XM_011536931.1:c.-409T= | XP_011535233.1:n.-409T= | |
| XM_011536932.1:c.-413T= | XP_011535234.1:n.-413T= | |
| NM_017807.4:c.-113T= MANE Select | NP_060277.1:n.-113T= |