Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7528300G>A , CM000681.2:g.7528300G>A | GRCh38 |
| NC_000019.9:g.7593186G>A , CM000681.1:g.7593186G>A | GRCh37 |
| NC_000019.8:g.7499186G>A | NCBI36 |
| NG_015806.1:g.10691G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.877+43G>A MANE Select | ENSP00000264079.5:n.877+43G>A | |
| ENST00000264079.10:c.877+43G>A | ENSP00000264079.5:n.877+43G>A | |
| ENST00000394321.9:n.1192+43G>A | ||
| NM_020533.2:c.877+43G>A | NP_065394.1:n.877+43G>A | |
| NM_020533.3:c.877+43G>A MANE Select | NP_065394.1:n.877+43G>A |