Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493343G= , CM000676.2:g.74493343G= | GRCh38 |
| NC_000014.8:g.74960046G= , CM000676.1:g.74960046G= | GRCh37 |
| NC_000014.7:g.74029799G= | NCBI36 |
| NG_007117.1:g.5039C= | |
| NG_033074.1:g.4624G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-63-6C= | ENSP00000450887.1:n.-63-6C= | |
| ENST00000555619.5:c.-69C= | ENSP00000451112.1:n.-69C= | |
| ENST00000556009.5:c.147+688C= | ||
| ENST00000557510.5:c.-69C= | ENSP00000451206.1:n.-69C= | |
| NM_006432.3:c.-69C= | NP_006423.1:n.-69C= | |
| NM_001363688.1:c.-69C= | NP_001350617.1:n.-69C= | |
| NM_006432.4:c.-69C= | NP_006423.1:n.-69C= |