Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431470C>T , CM000663.2:g.68431470C>T | GRCh38 |
| NC_000001.10:g.68897153C>T , CM000663.1:g.68897153C>T | GRCh37 |
| NC_000001.9:g.68669741C>T | NCBI36 |
| NG_008472.1:g.23490G>A | |
| NG_008472.2:g.23490G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.1243+1G>A MANE Select | NP_000320.1:n.1243+1G>A |
| ENST00000262340.6:c.1243+1G>A MANE Select | ENSP00000262340.5:n.1243+1G>A |
| NM_000329.2:c.1243+1G>A | NP_000320.1:n.1243+1G>A |
| ENST00000262340.5:c.1243+1G>A | ENSP00000262340.5:n.1243+1G>A |
| XM_017002027.1:c.967+1G>A | XP_016857516.1:n.967+1G>A |