gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09852007 (AMR)
Genomes Max Group AF
0.09852007 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.138243675T>C , CM000670.2:g.138243675T>C | GRCh38 |
| NC_000008.10:g.139255918T>C , CM000670.1:g.139255918T>C | GRCh37 |
| NC_000008.9:g.139325100T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395297.6:c.543-607A>G MANE Select | ENSP00000378710.1:n.543-607A>G | |
| ENST00000276737.10:c.543-607A>G | ENSP00000276737.6:n.543-607A>G | |
| ENST00000395297.5:c.543-607A>G | ENSP00000378710.1:n.543-607A>G | |
| ENST00000482951.6:c.*489-607A>G | ENSP00000429874.1:n.*489-607A>G | |
| NM_015912.3:c.543-607A>G | NP_056996.2:n.543-607A>G | |
| XM_011517056.1:c.543-607A>G | XP_011515358.1:n.543-607A>G | |
| XM_011517057.1:c.543-607A>G | XP_011515359.1:n.543-607A>G | |
| XM_011517058.1:c.543-607A>G | XP_011515360.1:n.543-607A>G | |
| XM_011517059.1:c.543-607A>G | XP_011515361.1:n.543-607A>G | |
| XM_011517060.1:c.543-607A>G | XP_011515362.1:n.543-607A>G | |
| XM_011517061.1:c.543-607A>G | XP_011515363.1:n.543-607A>G | |
| XM_011517062.1:c.543-607A>G | XP_011515364.1:n.543-607A>G | |
| XM_011517063.1:c.543-607A>G | XP_011515365.1:n.543-607A>G | |
| XM_011517064.1:c.543-607A>G | XP_011515366.1:n.543-607A>G | |
| XM_011517065.1:c.495-607A>G | XP_011515367.1:n.495-607A>G | |
| XM_011517066.1:c.543-607A>G | XP_011515368.1:n.543-607A>G | |
| XM_011517067.1:c.543-607A>G | XP_011515369.1:n.543-607A>G | |
| XM_011517068.1:c.246-607A>G | XP_011515370.1:n.246-607A>G | |
| XM_011517069.1:c.-164A>G | XP_011515371.1:n.-164A>G | |
| XM_011517070.1:c.543-607A>G | XP_011515372.1:n.543-607A>G | |
| XM_011517071.1:c.543-607A>G | XP_011515373.1:n.543-607A>G | |
| NM_001362965.1:c.543-607A>G | NP_001349894.1:n.543-607A>G | |
| XM_011517056.2:c.543-607A>G | XP_011515358.1:n.543-607A>G | |
| XM_011517058.2:c.543-607A>G | XP_011515360.1:n.543-607A>G | |
| XM_011517060.2:c.543-607A>G | XP_011515362.1:n.543-607A>G | |
| XM_011517061.2:c.543-607A>G | XP_011515363.1:n.543-607A>G | |
| XM_011517063.2:c.543-607A>G | XP_011515365.1:n.543-607A>G | |
| XM_011517064.2:c.543-607A>G | XP_011515366.1:n.543-607A>G | |
| XM_011517068.2:c.246-607A>G | XP_011515370.1:n.246-607A>G | |
| XM_011517069.2:c.-164A>G | XP_011515371.1:n.-164A>G | |
| XM_011517070.2:c.543-607A>G | XP_011515372.1:n.543-607A>G | |
| XM_017013471.1:c.486-607A>G | XP_016868960.1:n.486-607A>G | |
| XR_001745531.1:n.1522-607A>G | ||
| XR_001745532.1:n.1523-607A>G | ||
| NM_015912.4:c.543-607A>G MANE Select | NP_056996.2:n.543-607A>G | |
| NM_001362965.2:c.543-607A>G | NP_001349894.1:n.543-607A>G |