Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045543G= , CM000675.2:g.48045543G= | GRCh38 |
| NC_000013.10:g.48619679G= , CM000675.1:g.48619679G= | GRCh37 |
| NC_000013.9:g.47517680G= | NCBI36 |
| NG_047021.1:g.12977G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.356-117G= MANE Select | ENSP00000258662.1:n.356-117G= | |
| ENST00000258662.2:c.356-117G= | ENSP00000258662.1:n.356-117G= | |
| NM_018283.2:c.356-117G= | NP_060753.1:n.356-117G= | |
| NM_018283.3:c.356-117G= | NP_060753.1:n.356-117G= | |
| NR_136687.1:n.536-117G= | ||
| NR_136688.1:n.536-117G= | ||
| NM_018283.4:c.356-117G= MANE Select | NP_060753.1:n.356-117G= | |
| NR_136687.2:n.377-117G= | ||
| NR_136688.2:n.377-117G= |