Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10897211T>C , CM000668.2:g.10897211T>C | GRCh38 |
| NC_000006.11:g.10897444T>C , CM000668.1:g.10897444T>C | GRCh37 |
| NC_000006.10:g.11005430T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283141.11:c.337-800T>C MANE Select | ENSP00000283141.6:n.337-800T>C | |
| ENST00000283141.10:c.337-800T>C | ENSP00000283141.6:n.337-800T>C | |
| ENST00000341041.8:c.337-800T>C | ENSP00000340320.4:n.337-800T>C | |
| ENST00000480294.1:c.*299-800T>C | ENSP00000417929.1:n.*299-800T>C | |
| ENST00000543878.5:c.334-800T>C | ENSP00000440676.2:n.334-800T>C | |
| NM_001040274.2:c.337-800T>C | NP_001035364.2:n.337-800T>C | |
| NM_001040274.3:c.337-800T>C MANE Select | NP_001035364.2:n.337-800T>C |