Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154957079C= , CM000685.2:g.154957079C= | GRCh38 |
| NC_000023.10:g.154185354C= , CM000685.1:g.154185354C= | GRCh37 |
| NC_000023.9:g.153838548C= | NCBI36 |
| NG_011403.1:g.70645G= | |
| NG_011403.2:g.70645G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1630G= MANE Select | ENSP00000353393.4:p.Asp544= | |
| ENST00000647125.1:c.*1506G= | ENSP00000496062.1:n.*1506G= | |
| ENST00000360256.8:c.1630G= | ENSP00000353393.4:p.Asp544= | |
| NM_000132.3:c.1630G= | NP_000123.1:p.Asp544= | |
| XM_011531126.1:c.1525G= | XP_011529428.1:p.Asp509= | |
| NM_000132.4:c.1630G= MANE Select | NP_000123.1:p.Asp544= |