Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4768948C>A , CM000673.2:g.4768948C>A | GRCh38 |
| NC_000011.9:g.4790178C>A , CM000673.1:g.4790178C>A | GRCh37 |
| NC_000011.8:g.4746754C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021801.5:c.-145+1607C>A MANE Select | NP_068573.2:n.-145+1607C>A |
| ENST00000380390.6:c.-145+1607C>A MANE Select | ENSP00000369753.1:n.-145+1607C>A |
| NM_001384608.1:c.-153+1607C>A | NP_001371537.1:n.-153+1607C>A |
| ENST00000300762.2:c.-153+1607C>A | ENSP00000300762.2:n.-153+1607C>A |
| ENST00000380390.5:c.-145+1607C>A | ENSP00000369753.1:n.-145+1607C>A |
| ENST00000477339.5:n.191+1607C>A |