Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.11042676G>A , CM000668.2:g.11042676G>A | GRCh38 |
| NC_000006.11:g.11042909G>A , CM000668.1:g.11042909G>A | GRCh37 |
| NC_000006.10:g.11150895G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017770.4:c.3+1552C>T MANE Select | NP_060240.3:n.3+1552C>T |
| ENST00000354666.4:c.3+1552C>T MANE Select | ENSP00000346693.3:n.3+1552C>T |
| NM_017770.3:c.3+1552C>T | NP_060240.3:n.3+1552C>T |
| ENST00000354666.3:c.3+1552C>T | ENSP00000346693.3:n.3+1552C>T |