gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24573763 (MID)
Genomes Max Group AF
0.23812412 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.25151396A>C , CM000680.2:g.25151396A>C | GRCh38 |
| NC_000018.9:g.22731360A>C , CM000680.1:g.22731360A>C | GRCh37 |
| NC_000018.8:g.20985358A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361524.8:c.3658+43764T>G MANE Select | ENSP00000354794.3:n.3658+43764T>G | |
| ENST00000361524.7:c.3658+43764T>G | ENSP00000354794.3:n.3658+43764T>G | |
| ENST00000399425.6:c.*3+43764T>G | ENSP00000382352.2:n.*3+43764T>G | |
| ENST00000538137.6:c.3658+43764T>G | ENSP00000440768.2:n.3658+43764T>G | |
| ENST00000577775.1:c.531-14657T>G | ||
| ENST00000584787.5:c.2998+43764T>G | ENSP00000463000.1:n.2998+43764T>G | |
| NM_001308225.1:c.2998+43764T>G | NP_001295154.1:n.2998+43764T>G | |
| NM_015461.2:c.3658+43764T>G | NP_056276.1:n.3658+43764T>G | |
| XM_011525909.1:c.3655+43764T>G | XP_011524211.1:n.3655+43764T>G | |
| XM_011525911.1:c.2998+43764T>G | XP_011524213.1:n.2998+43764T>G | |
| XM_011525909.3:c.3655+43764T>G | XP_011524211.1:n.3655+43764T>G | |
| XM_011525911.2:c.2998+43764T>G | XP_011524213.1:n.2998+43764T>G | |
| XM_017025697.2:c.2995+43764T>G | XP_016881186.1:n.2995+43764T>G | |
| XM_017025698.2:c.2998+43764T>G | XP_016881187.1:n.2998+43764T>G | |
| XM_024451141.1:c.2998+43764T>G | XP_024306909.1:n.2998+43764T>G | |
| XM_024451142.1:c.2998+43764T>G | XP_024306910.1:n.2998+43764T>G | |
| NM_015461.3:c.3658+43764T>G MANE Select | NP_056276.1:n.3658+43764T>G | |
| NM_001308225.2:c.2998+43764T>G | NP_001295154.1:n.2998+43764T>G |