gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55243105 (AMR)
Genomes Max Group AF
0.55243105 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.14446003C>T , CM000671.2:g.14446003C>T | GRCh38 |
| NC_000009.11:g.14446001C>T , CM000671.1:g.14446001C>T | GRCh37 |
| NC_000009.10:g.14436001C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001369458.1:c.96+85944G>A | NP_001356387.1:n.96+85944G>A | |
| NM_001369459.1:c.96+85944G>A | NP_001356388.1:n.96+85944G>A | |
| NM_001369462.1:c.96+85944G>A | NP_001356391.1:n.96+85944G>A | |
| NM_001369468.1:c.96+85944G>A | NP_001356397.1:n.96+85944G>A |