Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493357G= , CM000676.2:g.74493357G= | GRCh38 |
| NC_000014.8:g.74960060G= , CM000676.1:g.74960060G= | GRCh37 |
| NC_000014.7:g.74029813G= | NCBI36 |
| NG_007117.1:g.5025C= | |
| NG_033074.1:g.4638G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-63-20C= | ENSP00000450887.1:n.-63-20C= | |
| ENST00000555619.5:c.-83C= | ENSP00000451112.1:n.-83C= | |
| ENST00000556009.5:c.147+674C= | ||
| NM_006432.3:c.-83C= | NP_006423.1:n.-83C= | |
| NM_001363688.1:c.-83C= | NP_001350617.1:n.-83C= | |
| NM_006432.4:c.-83C= | NP_006423.1:n.-83C= |