Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045915C= , CM000675.2:g.48045915C= | GRCh38 |
| NC_000013.10:g.48620051C= , CM000675.1:g.48620051C= | GRCh37 |
| NC_000013.9:g.47518052C= | NCBI36 |
| NG_047021.1:g.13349C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.*116C= MANE Select | ENSP00000258662.1:n.*116C= | |
| ENST00000258662.2:c.*116C= | ENSP00000258662.1:n.*116C= | |
| NM_018283.2:c.*116C= | NP_060753.1:n.*116C= | |
| NM_018283.3:c.*116C= | NP_060753.1:n.*116C= | |
| NR_136687.1:n.718+73C= | ||
| NR_136688.1:n.675+116C= | ||
| NM_018283.4:c.*116C= MANE Select | NP_060753.1:n.*116C= | |
| NR_136687.2:n.559+73C= | ||
| NR_136688.2:n.516+116C= |