Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26510336T= , CM000668.2:g.26510336T= | GRCh38 |
| NC_000006.11:g.26510564T= , CM000668.1:g.26510564T= | GRCh37 |
| NC_000006.10:g.26618543T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684113.1:c.*1162T= MANE Select | ENSP00000507193.1:n.*1162T= | |
| ENST00000244513.10:c.*1162T= | ENSP00000244513.6:n.*1162T= | |
| NM_001732.2:c.*1162T= | NP_001723.2:n.*1162T= | |
| XM_005249340.2:c.*1162T= | XP_005249397.2:n.*1162T= | |
| XM_005249340.3:c.*1162T= | XP_005249397.2:n.*1162T= | |
| XR_001744057.2:n.2716+11173A= | ||
| NM_001732.3:c.*1162T= MANE Select | NP_001723.2:n.*1162T= |