Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045987T>C , CM000675.2:g.48045987T>C | GRCh38 |
| NC_000013.10:g.48620123T>C , CM000675.1:g.48620123T>C | GRCh37 |
| NC_000013.9:g.47518124T>C | NCBI36 |
| NG_047021.1:g.13421T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.*188T>C MANE Select | ENSP00000258662.1:n.*188T>C | |
| ENST00000258662.2:c.*188T>C | ENSP00000258662.1:n.*188T>C | |
| NM_018283.2:c.*188T>C | NP_060753.1:n.*188T>C | |
| NM_018283.3:c.*188T>C | NP_060753.1:n.*188T>C | |
| NR_136687.1:n.718+145T>C | ||
| NR_136688.1:n.675+188T>C | ||
| NM_018283.4:c.*188T>C MANE Select | NP_060753.1:n.*188T>C | |
| NR_136687.2:n.559+145T>C | ||
| NR_136688.2:n.516+188T>C |