Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493507C= , CM000676.2:g.74493507C= | GRCh38 |
| NC_000014.8:g.74960210C= , CM000676.1:g.74960210C= | GRCh37 |
| NC_000014.7:g.74029963C= | NCBI36 |
| NG_007117.1:g.4875G= | |
| NG_033074.1:g.4788C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-64+63G= | ENSP00000450887.1:n.-64+63G= | |
| ENST00000555619.5:c.-233G= | ENSP00000451112.1:n.-233G= | |
| ENST00000556009.5:c.147+524G= | ||
| NM_001363688.1:c.-233G= | NP_001350617.1:n.-233G= | |
| NM_006432.4:c.-233G= | NP_006423.1:n.-233G= |