Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045810A>T , CM000675.2:g.48045810A>T | GRCh38 |
| NC_000013.10:g.48619946A>T , CM000675.1:g.48619946A>T | GRCh37 |
| NC_000013.9:g.47517947A>T | NCBI36 |
| NG_047021.1:g.13244A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.*11A>T MANE Select | ENSP00000258662.1:n.*11A>T | |
| ENST00000258662.2:c.*11A>T | ENSP00000258662.1:n.*11A>T | |
| NM_018283.2:c.*11A>T | NP_060753.1:n.*11A>T | |
| NM_018283.3:c.*11A>T | NP_060753.1:n.*11A>T | |
| NR_136687.1:n.686A>T | ||
| NR_136688.1:n.675+11A>T | ||
| NM_018283.4:c.*11A>T MANE Select | NP_060753.1:n.*11A>T | |
| NR_136687.2:n.527A>T | ||
| NR_136688.2:n.516+11A>T |