Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67943052G>T , CM000678.2:g.67943052G>T | GRCh38 |
| NC_000016.9:g.67976955G>T , CM000678.1:g.67976955G>T | GRCh37 |
| NC_000016.8:g.66534456G>T | NCBI36 |
| NG_009778.1:g.6061C>A | |
| NG_033098.1:g.30643C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000229.2:c.311+4C>A MANE Select | NP_000220.1:n.311+4C>A |
| ENST00000264005.10:c.311+4C>A MANE Select | ENSP00000264005.5:n.311+4C>A |
| NM_000229.1:c.311+4C>A | NP_000220.1:n.311+4C>A |
| ENST00000264005.9:c.311+4C>A | ENSP00000264005.5:n.311+4C>A |
| ENST00000570369.5:c.39+4C>A | |
| ENST00000570980.1:c.95+4C>A | ENSP00000464651.1:n.95+4C>A |
| ENST00000575277.1:n.89+4C>A | |
| ENST00000575467.5:c.*6+4C>A | ENSP00000460653.1:n.*6+4C>A |