Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110821894C= , CM000672.2:g.110821894C= | GRCh38 |
| NC_000010.10:g.112581652C= , CM000672.1:g.112581652C= | GRCh37 |
| NC_000010.9:g.112571642C= | NCBI36 |
| NG_021177.1:g.182498C= , LRG_382:g.182498C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001134363.3:c.3275C= MANE Select | NP_001127835.2:p.Thr1092= |
| ENST00000369519.4:c.3275C= MANE Select | ENSP00000358532.3:p.Thr1092= |
| NM_001134363.2:c.3275C= | NP_001127835.2:p.Thr1092= |
| ENST00000369519.3:c.3275C= | ENSP00000358532.3:p.Thr1092= |
| XM_011539697.1:c.2891C= | XP_011537999.1:p.Thr964= |
| XM_017016103.2:c.3110C= | XP_016871592.1:p.Thr1037= |
| XM_017016104.2:c.2891C= | XP_016871593.1:p.Thr964= |