ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1772798C>A , CM000678.2:g.1772798C>A | GRCh38 |
| NC_000016.9:g.1822799C>A , CM000678.1:g.1822799C>A | GRCh37 |
| NC_000016.8:g.1762800C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397375.7:c.321+1G>T MANE Select | ENSP00000380531.3:n.321+1G>T | |
| ENST00000177742.7:c.321+1G>T | ENSP00000177742.3:n.321+1G>T | |
| ENST00000397375.6:c.321+1G>T | ENSP00000380531.2:n.321+1G>T | |
| ENST00000613089.1:c.321+1G>T | ENSP00000479049.1:n.321+1G>T | |
| NM_001300900.1:c.321+1G>T | NP_001287829.1:n.321+1G>T | |
| NM_023936.1:c.321+1G>T | NP_076425.1:n.321+1G>T | |
| XM_017023595.1:c.321+1G>T | XP_016879084.1:n.321+1G>T | |
| NM_001300900.2:c.321+1G>T | NP_001287829.1:n.321+1G>T | |
| NM_023936.2:c.321+1G>T MANE Select | NP_076425.1:n.321+1G>T |