gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88460225 (AMR)
Genomes Max Group AF
0.88460225 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28041642T>C , CM000678.2:g.28041642T>C | GRCh38 |
| NC_000016.9:g.28052963T>C , CM000678.1:g.28052963T>C | GRCh37 |
| NC_000016.8:g.27960464T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447459.7:c.349+21434A>G MANE Select | ENSP00000394954.2:n.349+21434A>G | |
| ENST00000395724.7:c.349+21434A>G | ENSP00000379074.3:n.349+21434A>G | |
| ENST00000447459.6:c.349+21434A>G | ENSP00000394954.2:n.349+21434A>G | |
| ENST00000562611.1:c.113+21434A>G | ||
| NM_001109763.1:c.349+21434A>G | NP_001103233.1:n.349+21434A>G | |
| XM_011545749.1:c.349+21434A>G | XP_011544051.1:n.349+21434A>G | |
| XM_011545750.1:c.349+21434A>G | XP_011544052.1:n.349+21434A>G | |
| XM_011545751.1:c.349+21434A>G | XP_011544053.1:n.349+21434A>G | |
| NM_001323900.1:c.349+21434A>G | NP_001310829.1:n.349+21434A>G | |
| NM_001323901.1:c.349+21434A>G | NP_001310830.1:n.349+21434A>G | |
| XM_011545750.2:c.349+21434A>G | XP_011544052.1:n.349+21434A>G | |
| XM_011545751.2:c.349+21434A>G | XP_011544053.1:n.349+21434A>G | |
| NM_001109763.2:c.349+21434A>G MANE Select | NP_001103233.1:n.349+21434A>G | |
| NM_001323900.2:c.349+21434A>G | NP_001310829.1:n.349+21434A>G | |
| NM_001323901.2:c.349+21434A>G | NP_001310830.1:n.349+21434A>G |