gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79725932 (NFE)
Genomes Max Group AF
0.79725932 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.26434645G>A , CM000674.2:g.26434645G>A | GRCh38 |
| NC_000012.11:g.26587578G>A , CM000674.1:g.26587578G>A | GRCh37 |
| NC_000012.10:g.26478845G>A | NCBI36 |
| NG_042142.1:g.403554C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381340.8:c.6769+1576C>T MANE Select | ENSP00000370744.3:n.6769+1576C>T | |
| ENST00000381340.7:c.6769+1576C>T | ENSP00000370744.3:n.6769+1576C>T | |
| ENST00000451599.6:c.1597+1576C>T | ENSP00000408287.2:n.1597+1576C>T | |
| NM_002223.2:c.6769+1576C>T | NP_002214.2:n.6769+1576C>T | |
| NM_002223.3:c.6769+1576C>T | NP_002214.2:n.6769+1576C>T | |
| XM_011520645.1:c.6217+1576C>T | XP_011518947.1:n.6217+1576C>T | |
| XM_011520646.1:c.5836+1576C>T | XP_011518948.1:n.5836+1576C>T | |
| XM_017019266.1:c.6829+1576C>T | XP_016874755.1:n.6829+1576C>T | |
| XM_017019267.1:c.6763+1576C>T | XP_016874756.1:n.6763+1576C>T | |
| XR_001748686.2:n.7245+1576C>T | ||
| NM_002223.4:c.6769+1576C>T MANE Select | NP_002214.2:n.6769+1576C>T |