Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919675G= , CM000679.2:g.74919675G= | GRCh38 |
| NC_000017.10:g.72915770G= , CM000679.1:g.72915770G= | GRCh37 |
| NC_000017.9:g.70427365G= | NCBI36 |
| NG_007882.1:g.8582C= | |
| NG_033062.1:g.401G= | |
| NG_007882.2:g.8589C= | |
| NG_033062.2:g.401G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.1161C= MANE Select | ENSP00000480279.1:p.Pro387= | |
| ENST00000579243.1:c.*760C= | ENSP00000462568.1:n.*760C= | |
| ENST00000614341.4:c.1161C= | ENSP00000480279.1:p.Pro387= | |
| NM_001282489.2:c.852C= | NP_001269418.1:p.Pro284= | |
| NM_173477.4:c.1161C= | NP_775748.2:p.Pro387= | |
| XM_011524296.1:c.852C= | XP_011522598.1:p.Pro284= | |
| XM_011524296.2:c.852C= | XP_011522598.1:p.Pro284= | |
| NM_173477.5:c.1161C= MANE Select | NP_775748.2:p.Pro387= | |
| NM_001282489.3:c.852C= | NP_001269418.1:p.Pro284= |