Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30248968T= , CM000679.2:g.30248968T= | GRCh38 |
| NC_000017.10:g.28575986T= , CM000679.1:g.28575986T= | GRCh37 |
| NC_000017.9:g.25600112T= | NCBI36 |
| NG_011440.1:g.48089A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261714.11:c.*49A= MANE Select | ENSP00000261714.6:n.*49A= | |
| ENST00000261714.10:c.*49A= | ENSP00000261714.6:n.*49A= | |
| ENST00000578090.5:c.*1091A= | ENSP00000462353.1:n.*1091A= | |
| ENST00000578795.1:n.1316A= | ||
| NM_000386.3:c.*49A= | NP_000377.1:n.*49A= | |
| XR_934653.1:n.701-819T= | ||
| XR_934655.1:n.701-3106T= | ||
| NM_000386.4:c.*49A= MANE Select | NP_000377.1:n.*49A= |