Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48046018C>T , CM000675.2:g.48046018C>T | GRCh38 |
| NC_000013.10:g.48620154C>T , CM000675.1:g.48620154C>T | GRCh37 |
| NC_000013.9:g.47518155C>T | NCBI36 |
| NG_047021.1:g.13452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.*219C>T MANE Select | ENSP00000258662.1:n.*219C>T | |
| ENST00000258662.2:c.*219C>T | ENSP00000258662.1:n.*219C>T | |
| NM_018283.2:c.*219C>T | NP_060753.1:n.*219C>T | |
| NM_018283.3:c.*219C>T | NP_060753.1:n.*219C>T | |
| NR_136687.1:n.718+176C>T | ||
| NR_136688.1:n.675+219C>T | ||
| NM_018283.4:c.*219C>T MANE Select | NP_060753.1:n.*219C>T | |
| NR_136687.2:n.559+176C>T | ||
| NR_136688.2:n.516+219C>T |