Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111073045C>T , CM000667.2:g.111073045C>T | GRCh38 |
| NC_000005.9:g.110408743C>T , CM000667.1:g.110408743C>T | GRCh37 |
| NC_000005.8:g.110436642C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.216+113C>T MANE Select | ENSP00000339804.3:n.216+113C>T | |
| ENST00000344895.3:c.216+113C>T | ENSP00000339804.3:n.216+113C>T | |
| ENST00000420978.6:c.216+113C>T | ENSP00000399099.2:n.216+113C>T | |
| NM_033035.4:c.216+113C>T | NP_149024.1:n.216+113C>T | |
| NR_045089.1:n.1620+113C>T | ||
| NM_033035.5:c.216+113C>T MANE Select | NP_149024.1:n.216+113C>T | |
| NR_045089.2:n.1638+113C>T |