Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750640A= , CM000684.2:g.27750640A= | GRCh38 |
| NC_000022.10:g.28146628A= , CM000684.1:g.28146628A= | GRCh37 |
| NC_000022.9:g.26476628A= | NCBI36 |
| NG_023258.1:g.55859T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.763T= | ||
| ENST00000302326.5:c.*275T= MANE Select | ENSP00000304956.4:n.*275T= | |
| ENST00000302326.4:c.*275T= | ENSP00000304956.4:n.*275T= | |
| ENST00000424656.1:c.455+136T= | ||
| NM_002430.2:c.*275T= | NP_002421.3:n.*275T= | |
| NM_002430.3:c.*275T= MANE Select | NP_002421.3:n.*275T= |