Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045971A>G , CM000675.2:g.48045971A>G | GRCh38 |
| NC_000013.10:g.48620107A>G , CM000675.1:g.48620107A>G | GRCh37 |
| NC_000013.9:g.47518108A>G | NCBI36 |
| NG_047021.1:g.13405A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.*172A>G MANE Select | ENSP00000258662.1:n.*172A>G | |
| ENST00000258662.2:c.*172A>G | ENSP00000258662.1:n.*172A>G | |
| NM_018283.2:c.*172A>G | NP_060753.1:n.*172A>G | |
| NM_018283.3:c.*172A>G | NP_060753.1:n.*172A>G | |
| NR_136687.1:n.718+129A>G | ||
| NR_136688.1:n.675+172A>G | ||
| NM_018283.4:c.*172A>G MANE Select | NP_060753.1:n.*172A>G | |
| NR_136687.2:n.559+129A>G | ||
| NR_136688.2:n.516+172A>G |