gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8743943 (AFR)
Genomes Max Group AF
0.8743943 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.96036642T>G , CM000674.2:g.96036642T>G | GRCh38 |
| NC_000012.11:g.96430420T>G , CM000674.1:g.96430420T>G | GRCh37 |
| NC_000012.10:g.94954551T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413268.6:c.87+6647A>C | ENSP00000395051.2:n.87+6647A>C | |
| ENST00000552789.5:c.87+6647A>C | ENSP00000449958.1:n.87+6647A>C | |
| NM_001256643.1:c.87+6647A>C | NP_001243572.1:n.87+6647A>C | |
| NM_001256644.1:c.87+6647A>C | NP_001243573.1:n.87+6647A>C |