Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107779668A= , CM000669.2:g.107779668A= | GRCh38 |
| NC_000007.13:g.107420113A= , CM000669.1:g.107420113A= | GRCh37 |
| NC_000007.12:g.107207349A= | NCBI36 |
| NG_008046.1:g.28566T= , LRG_683:g.28566T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.1407T= MANE Select | ENSP00000345873.5:p.Cys469= | |
| ENST00000340010.9:c.1407T= | ENSP00000345873.5:p.Cys469= | |
| ENST00000379083.7:c.*1198T= | ENSP00000368375.3:n.*1198T= | |
| NM_000111.2:c.1407T= , LRG_683t1:c.1407T= | NP_000102.1:p.Cys469= | |
| XM_011515867.1:c.1407T= | XP_011514169.1:p.Cys469= | |
| NM_000111.3:c.1407T= MANE Select | NP_000102.1:p.Cys469= |