Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890551G= , CM000668.2:g.131890551G= | GRCh38 |
| NC_000006.11:g.132211691G= , CM000668.1:g.132211691G= | GRCh37 |
| NC_000006.10:g.132253384G= | NCBI36 |
| NG_008206.1:g.87536G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1249G= | ||
| ENST00000647893.1:c.*40G= MANE Select | ENSP00000498074.1:n.*40G= | |
| ENST00000360971.6:c.*40G= | ENSP00000354238.2:n.*40G= | |
| ENST00000513998.5:c.*1655G= | ENSP00000422424.1:n.*1655G= | |
| NM_006208.2:c.*40G= | NP_006199.2:n.*40G= | |
| XM_011535896.1:c.*40G= | XP_011534198.1:n.*40G= | |
| NM_006208.3:c.*40G= MANE Select | NP_006199.2:n.*40G= |