gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1769664 (EAS)
Genomes Max Group AF
0.1769664 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42763570C>A , CM000670.2:g.42763570C>A | GRCh38 |
| NC_000008.10:g.42618713C>A , CM000670.1:g.42618713C>A | GRCh37 |
| NC_000008.9:g.42737870C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276410.7:c.219+1495G>T MANE Select | ENSP00000276410.3:n.219+1495G>T | |
| ENST00000276410.6:c.219+1495G>T | ENSP00000276410.2:n.219+1495G>T | |
| ENST00000530869.1:n.421+1495G>T | ||
| ENST00000533810.5:c.-19+1495G>T | ENSP00000434659.1:n.-19+1495G>T | |
| ENST00000534622.5:c.219+1495G>T | ENSP00000433871.1:n.219+1495G>T | |
| NM_001199279.1:c.219+1495G>T | NP_001186208.1:n.219+1495G>T | |
| NM_004198.3:c.219+1495G>T MANE Select | NP_004189.1:n.219+1495G>T |