Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750393A= , CM000684.2:g.27750393A= | GRCh38 |
| NC_000022.10:g.28146381A= , CM000684.1:g.28146381A= | GRCh37 |
| NC_000022.9:g.26476381A= | NCBI36 |
| NG_023258.1:g.56106T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.1010T= | ||
| ENST00000302326.5:c.*522T= MANE Select | ENSP00000304956.4:n.*522T= | |
| ENST00000302326.4:c.*522T= | ENSP00000304956.4:n.*522T= | |
| ENST00000424656.1:c.456-165T= | ||
| NM_002430.2:c.*522T= | NP_002421.3:n.*522T= | |
| NM_002430.3:c.*522T= MANE Select | NP_002421.3:n.*522T= |