Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67943051T>C , CM000678.2:g.67943051T>C | GRCh38 |
| NC_000016.9:g.67976954T>C , CM000678.1:g.67976954T>C | GRCh37 |
| NC_000016.8:g.66534455T>C | NCBI36 |
| NG_009778.1:g.6062A>G | |
| NG_033098.1:g.30644A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000229.2:c.311+5A>G MANE Select | NP_000220.1:n.311+5A>G |
| ENST00000264005.10:c.311+5A>G MANE Select | ENSP00000264005.5:n.311+5A>G |
| NM_000229.1:c.311+5A>G | NP_000220.1:n.311+5A>G |
| ENST00000264005.9:c.311+5A>G | ENSP00000264005.5:n.311+5A>G |
| ENST00000570369.5:c.39+5A>G | |
| ENST00000570980.1:c.95+5A>G | ENSP00000464651.1:n.95+5A>G |
| ENST00000575277.1:n.89+5A>G | |
| ENST00000575467.5:c.*6+5A>G | ENSP00000460653.1:n.*6+5A>G |