Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10897295C= , CM000668.2:g.10897295C= | GRCh38 |
| NC_000006.11:g.10897528C= , CM000668.1:g.10897528C= | GRCh37 |
| NC_000006.10:g.11005514C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283141.11:c.337-716C= MANE Select | ENSP00000283141.6:n.337-716C= | |
| ENST00000283141.10:c.337-716C= | ENSP00000283141.6:n.337-716C= | |
| ENST00000341041.8:c.337-716C= | ENSP00000340320.4:n.337-716C= | |
| ENST00000480294.1:c.*299-716C= | ENSP00000417929.1:n.*299-716C= | |
| ENST00000543878.5:c.334-716C= | ENSP00000440676.2:n.334-716C= | |
| NM_001040274.2:c.337-716C= | NP_001035364.2:n.337-716C= | |
| NM_001040274.3:c.337-716C= MANE Select | NP_001035364.2:n.337-716C= |