Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528040C>A , CM000681.2:g.7528040C>A | GRCh38 |
| NC_000019.9:g.7592926C>A , CM000681.1:g.7592926C>A | GRCh37 |
| NC_000019.8:g.7498926C>A | NCBI36 |
| NG_015806.1:g.10431C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.777+80C>A MANE Select | ENSP00000264079.5:n.777+80C>A | |
| ENST00000264079.10:c.777+80C>A | ENSP00000264079.5:n.777+80C>A | |
| ENST00000394321.9:n.1092+80C>A | ||
| NM_020533.2:c.777+80C>A | NP_065394.1:n.777+80C>A | |
| NM_020533.3:c.777+80C>A MANE Select | NP_065394.1:n.777+80C>A |