Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75950561C>T , CM000668.2:g.75950561C>T | GRCh38 |
| NC_000006.11:g.76660278C>T , CM000668.1:g.76660278C>T | GRCh37 |
| NC_000006.10:g.76716998C>T | NCBI36 |
| NG_041812.1:g.127118G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001563.4:c.1824+1G>A MANE Select | NP_001554.2:n.1824+1G>A |
| ENST00000369950.8:c.1824+1G>A MANE Select | ENSP00000358966.3:n.1824+1G>A |
| NM_001282368.1:c.1590+1G>A | NP_001269297.1:n.1590+1G>A |
| NM_001282368.2:c.1590+1G>A | NP_001269297.1:n.1590+1G>A |
| NM_001563.3:c.1824+1G>A | NP_001554.2:n.1824+1G>A |
| ENST00000369950.7:c.1824+1G>A | ENSP00000358966.3:n.1824+1G>A |
| ENST00000611179.4:c.1590+1G>A | ENSP00000481913.1:n.1590+1G>A |