gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18298285 (AFR)
Genomes Max Group AF
0.18298285 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41751113A>C , CM000666.2:g.41751113A>C | GRCh38 |
| NC_000004.11:g.41753130A>C , CM000666.1:g.41753130A>C | GRCh37 |
| NC_000004.10:g.41447887A>C | NCBI36 |
| NG_008243.1:g.2858T>G , LRG_513:g.2858T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741668.1:n.294+2527A>C | ||
| XR_001741669.1:n.294+2527A>C | ||
| XR_001741670.1:n.294+2527A>C | ||
| XR_001741671.1:n.294+2527A>C | ||
| XR_925256.2:n.294+2527A>C |