Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71576180C>T , CM000678.2:g.71576180C>T | GRCh38 |
| NC_000016.9:g.71610083C>T , CM000678.1:g.71610083C>T | GRCh37 |
| NC_000016.8:g.70167584C>T | NCBI36 |
| NG_008235.1:g.5916G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000353.3:c.235+1G>A MANE Select | NP_000344.1:n.235+1G>A |
| ENST00000355962.5:c.235+1G>A MANE Select | ENSP00000348234.4:n.235+1G>A |
| NM_000353.2:c.235+1G>A | NP_000344.1:n.235+1G>A |
| ENST00000355962.4:c.235+1G>A | ENSP00000348234.4:n.235+1G>A |
| ENST00000566010.1:n.332G>A | |
| ENST00000566094.5:n.331+1G>A |