Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353349A= , CM000674.2:g.69353349A= | GRCh38 |
| NC_000012.11:g.69747129A= , CM000674.1:g.69747129A= | GRCh37 |
| NC_000012.10:g.68033396A= | NCBI36 |
| NG_008195.1:g.9996A= , LRG_768:g.9996A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*130A= MANE Select | ENSP00000261267.2:n.*130A= | |
| ENST00000261267.6:c.*130A= | ENSP00000261267.2:n.*130A= | |
| ENST00000549690.1:c.*84A= | ENSP00000449898.1:n.*84A= | |
| NM_000239.2:c.*130A= , LRG_768t1:c.*130A= | NP_000230.1:n.*130A= | |
| NM_000239.3:c.*130A= MANE Select | NP_000230.1:n.*130A= |