Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890514T= , CM000668.2:g.131890514T= | GRCh38 |
| NC_000006.11:g.132211654T= , CM000668.1:g.132211654T= | GRCh37 |
| NC_000006.10:g.132253347T= | NCBI36 |
| NG_008206.1:g.87499T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1212T= | ||
| ENST00000647893.1:c.*3T= MANE Select | ENSP00000498074.1:n.*3T= | |
| ENST00000360971.6:c.*3T= | ENSP00000354238.2:n.*3T= | |
| ENST00000513998.5:c.*1618T= | ENSP00000422424.1:n.*1618T= | |
| NM_006208.2:c.*3T= | NP_006199.2:n.*3T= | |
| XM_011535896.1:c.*3T= | XP_011534198.1:n.*3T= | |
| NM_006208.3:c.*3T= MANE Select | NP_006199.2:n.*3T= |