Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110667691C= , CM000672.2:g.110667691C= | GRCh38 |
| NC_000010.10:g.112427449C= , CM000672.1:g.112427449C= | GRCh37 |
| NC_000010.9:g.112417439C= | NCBI36 |
| NG_021177.1:g.28295C= , LRG_382:g.28295C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001134363.3:c.191+23046C= MANE Select | NP_001127835.2:n.191+23046C= |
| ENST00000369519.4:c.191+23046C= MANE Select | ENSP00000358532.3:n.191+23046C= |
| NM_001134363.2:c.191+23046C= | NP_001127835.2:n.191+23046C= |
| ENST00000369519.3:c.191+23046C= | ENSP00000358532.3:n.191+23046C= |
| XM_017016103.2:c.26+24251C= | XP_016871592.1:n.26+24251C= |
| XR_428811.2:n.158+198C= |