Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.76002917C>A , CM000668.2:g.76002917C>A | GRCh38 |
| NC_000006.11:g.76712634C>A , CM000668.1:g.76712634C>A | GRCh37 |
| NC_000006.10:g.76769354C>A | NCBI36 |
| NG_041812.1:g.74762G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001563.4:c.1291+1G>T MANE Select | NP_001554.2:n.1291+1G>T |
| ENST00000369950.8:c.1291+1G>T MANE Select | ENSP00000358966.3:n.1291+1G>T |
| NM_001282368.1:c.1057+1G>T | NP_001269297.1:n.1057+1G>T |
| NM_001282368.2:c.1057+1G>T | NP_001269297.1:n.1057+1G>T |
| NM_001563.3:c.1291+1G>T | NP_001554.2:n.1291+1G>T |
| ENST00000369950.7:c.1291+1G>T | ENSP00000358966.3:n.1291+1G>T |
| ENST00000611179.4:c.1057+1G>T | ENSP00000481913.1:n.1057+1G>T |