Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28578372C>T , CM000679.2:g.28578372C>T | GRCh38 |
| NC_000017.10:g.26905390C>T , CM000679.1:g.26905390C>T | GRCh37 |
| NC_000017.9:g.23929517C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321765.10:c.3354+1G>A MANE Select | ENSP00000323300.5:n.3354+1G>A | |
| ENST00000321765.9:c.3354+1G>A | ENSP00000323300.5:n.3354+1G>A | |
| ENST00000481916.6:c.*1195+25679G>A | ENSP00000436369.2:n.*1195+25679G>A | |
| ENST00000580377.2:n.58+1G>A | ||
| ENST00000580676.1:n.493G>A | ||
| ENST00000582076.1:c.391+1G>A | ||
| ENST00000582175.1:n.221G>A | ||
| NM_006461.3:c.3354+1G>A | NP_006452.3:n.3354+1G>A | |
| NM_006461.4:c.3354+1G>A MANE Select | NP_006452.3:n.3354+1G>A |