Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919655G= , CM000679.2:g.74919655G= | GRCh38 |
| NC_000017.10:g.72915750G= , CM000679.1:g.72915750G= | GRCh37 |
| NC_000017.9:g.70427345G= | NCBI36 |
| NG_007882.1:g.8602C= | |
| NG_033062.1:g.381G= | |
| NG_007882.2:g.8609C= | |
| NG_033062.2:g.381G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.1181C= MANE Select | ENSP00000480279.1:p.Thr394= | |
| ENST00000579243.1:c.*780C= | ENSP00000462568.1:n.*780C= | |
| ENST00000614341.4:c.1181C= | ENSP00000480279.1:p.Thr394= | |
| NM_001282489.2:c.872C= | NP_001269418.1:p.Thr291= | |
| NM_173477.4:c.1181C= | NP_775748.2:p.Thr394= | |
| XM_011524296.1:c.872C= | XP_011522598.1:p.Thr291= | |
| XM_011524296.2:c.872C= | XP_011522598.1:p.Thr291= | |
| NM_173477.5:c.1181C= MANE Select | NP_775748.2:p.Thr394= | |
| NM_001282489.3:c.872C= | NP_001269418.1:p.Thr291= |