Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045806G>T , CM000675.2:g.48045806G>T | GRCh38 |
| NC_000013.10:g.48619942G>T , CM000675.1:g.48619942G>T | GRCh37 |
| NC_000013.9:g.47517943G>T | NCBI36 |
| NG_047021.1:g.13240G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.*7G>T MANE Select | ENSP00000258662.1:n.*7G>T | |
| ENST00000258662.2:c.*7G>T | ENSP00000258662.1:n.*7G>T | |
| NM_018283.2:c.*7G>T | NP_060753.1:n.*7G>T | |
| NM_018283.3:c.*7G>T | NP_060753.1:n.*7G>T | |
| NR_136687.1:n.682G>T | ||
| NR_136688.1:n.675+7G>T | ||
| NM_018283.4:c.*7G>T MANE Select | NP_060753.1:n.*7G>T | |
| NR_136687.2:n.523G>T | ||
| NR_136688.2:n.516+7G>T |