Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.83516746C>A , CM000668.2:g.83516746C>A | GRCh38 |
| NC_000006.11:g.84226465C>A , CM000668.1:g.84226465C>A | GRCh37 |
| NC_000006.10:g.84283184C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369700.4:c.-21+4052C>A MANE Select | ENSP00000358714.3:n.-21+4052C>A | |
| ENST00000369700.3:c.-21+4052C>A | ENSP00000358714.3:n.-21+4052C>A | |
| NM_001170423.1:c.-126+4052C>A | NP_001163894.1:n.-126+4052C>A | |
| NM_153362.2:c.-21+4052C>A | NP_699193.2:n.-21+4052C>A | |
| NM_153362.3:c.-21+4052C>A MANE Select | NP_699193.2:n.-21+4052C>A | |
| NM_001170423.2:c.-126+4052C>A | NP_001163894.1:n.-126+4052C>A |