Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045802G= , CM000675.2:g.48045802G= | GRCh38 |
| NC_000013.10:g.48619938G= , CM000675.1:g.48619938G= | GRCh37 |
| NC_000013.9:g.47517939G= | NCBI36 |
| NG_047021.1:g.13236G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.*3G= MANE Select | ENSP00000258662.1:n.*3G= | |
| ENST00000258662.2:c.*3G= | ENSP00000258662.1:n.*3G= | |
| NM_018283.2:c.*3G= | NP_060753.1:n.*3G= | |
| NM_018283.3:c.*3G= | NP_060753.1:n.*3G= | |
| NR_136687.1:n.678G= | ||
| NR_136688.1:n.675+3G= | ||
| NM_018283.4:c.*3G= MANE Select | NP_060753.1:n.*3G= | |
| NR_136687.2:n.519G= | ||
| NR_136688.2:n.516+3G= |