gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72426704 (AFR)
Genomes Max Group AF
0.72426704 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57249477A>G , CM000682.2:g.57249477A>G | GRCh38 |
| NC_000020.10:g.55824533A>G , CM000682.1:g.55824533A>G | GRCh37 |
| NC_000020.9:g.55257940A>G | NCBI36 |
| NG_032771.1:g.22175T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395863.8:c.418+16228T>C MANE Select | ENSP00000379204.3:n.418+16228T>C | |
| ENST00000395863.7:c.418+16228T>C | ENSP00000379204.3:n.418+16228T>C | |
| ENST00000395864.7:c.418+16228T>C | ENSP00000379205.3:n.418+16228T>C | |
| ENST00000433911.1:c.74+16228T>C | ||
| ENST00000450594.6:c.418+16228T>C | ENSP00000398687.2:n.418+16228T>C | |
| NM_001719.2:c.418+16228T>C | NP_001710.1:n.418+16228T>C | |
| NM_001719.3:c.418+16228T>C MANE Select | NP_001710.1:n.418+16228T>C |