Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151053893C= , CM000669.2:g.151053893C= | GRCh38 |
| NC_000007.13:g.150750980C= , CM000669.1:g.150750980C= | GRCh37 |
| NC_000007.12:g.150381913C= | NCBI36 |
| NG_042167.1:g.9073G= | |
| NG_051947.1:g.694C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485972.6:c.*116G= MANE Select | ENSP00000419782.1:n.*116G= | |
| ENST00000485972.5:c.*116G= | ENSP00000419782.1:n.*116G= | |
| NM_001164410.2:c.*116G= | NP_001157882.1:n.*116G= | |
| NM_004935.3:c.*116G= | NP_004926.1:n.*116G= | |
| NM_004935.4:c.*116G= MANE Select | NP_004926.1:n.*116G= | |
| NM_001164410.3:c.*116G= | NP_001157882.1:n.*116G= |