Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81701064C= , CM000669.2:g.81701064C= | GRCh38 |
| NC_000007.13:g.81330380C= , CM000669.1:g.81330380C= | GRCh37 |
| NC_000007.12:g.81168316C= | NCBI36 |
| NG_016274.1:g.74073G= | |
| NG_016274.2:g.74073G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222390.11:c.*1517G= MANE Select | ENSP00000222390.5:n.*1517G= | |
| ENST00000222390.9:c.*1517G= | ENSP00000222390.5:n.*1517G= | |
| XM_006715956.2:c.*1517G= | XP_006716019.1:n.*1517G= | |
| XM_011516115.1:c.*1517G= | XP_011514417.1:n.*1517G= | |
| NM_000601.5:c.*1517G= | NP_000592.3:n.*1517G= | |
| NM_001010932.2:c.*1517G= | NP_001010932.1:n.*1517G= | |
| XM_011516115.2:c.*1517G= | XP_011514417.1:n.*1517G= | |
| NM_000601.6:c.*1517G= MANE Select | NP_000592.3:n.*1517G= | |
| NM_001010932.3:c.*1517G= | NP_001010932.1:n.*1517G= |