gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30823167 (AFR)
Genomes Max Group AF
0.30823167 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186265981C>G , CM000666.2:g.186265981C>G | GRCh38 |
| NC_000004.11:g.187187135C>G , CM000666.1:g.187187135C>G | GRCh37 |
| NC_000004.10:g.187424129C>G | NCBI36 |
| NG_008051.1:g.5018C>G , LRG_583:g.5018C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.6:c.-316C>G | ENSP00000384957.2:n.-316C>G | |
| NM_000128.3:c.-316C>G , LRG_583t1:c.-316C>G | NP_000119.1:n.-316C>G | |
| XM_005262821.2:c.-316C>G | XP_005262878.1:n.-316C>G | |
| XM_005262822.2:c.-316C>G | XP_005262879.1:n.-316C>G | |
| XM_005262823.2:c.-316C>G | XP_005262880.1:n.-316C>G | |
| XM_005262824.1:c.-316C>G | XP_005262881.1:n.-316C>G | |
| XM_006714137.1:c.-316C>G | XP_006714200.1:n.-316C>G | |
| XR_938706.1:n.37C>G | ||
| XR_938707.1:n.37C>G | ||
| NM_001354804.1:c.-316C>G | NP_001341733.1:n.-316C>G | |
| XM_005262821.4:c.-316C>G | XP_005262878.1:n.-316C>G | |
| XM_005262822.4:c.-316C>G | XP_005262879.1:n.-316C>G | |
| XM_005262823.4:c.-316C>G | XP_005262880.1:n.-316C>G | |
| XM_006714137.3:c.-316C>G | XP_006714200.1:n.-316C>G | |
| XM_017007884.2:c.-316C>G | XP_016863373.1:n.-316C>G | |
| XM_017007885.2:c.-316C>G | XP_016863374.1:n.-316C>G | |
| XM_017007886.2:c.-316C>G | XP_016863375.1:n.-316C>G | |
| XR_001741172.2:n.18C>G |