Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859663C= , CM000668.2:g.31859663C= | GRCh38 |
| NC_000006.11:g.31827440C= , CM000668.1:g.31827440C= | GRCh37 |
| NC_000006.10:g.31935419C= | NCBI36 |
| NG_008201.1:g.8270G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.*56G= MANE Select | ENSP00000364782.4:n.*56G= | |
| ENST00000677054.1:n.2643G= | ||
| ENST00000677512.1:n.1581G= | ||
| ENST00000678869.1:n.1892G= | ||
| ENST00000375631.4:c.*56G= | ENSP00000364782.4:n.*56G= | |
| ENST00000480384.1:n.1603G= | ||
| ENST00000491768.5:c.*414G= | ENSP00000433127.1:n.*414G= | |
| ENST00000495807.1:n.2612G= | ||
| NM_000434.3:c.*56G= | NP_000425.1:n.*56G= | |
| NM_000434.4:c.*56G= MANE Select | NP_000425.1:n.*56G= |