gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64642512 (AFR)
Genomes Max Group AF
0.64642512 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143622177T>C , CM000668.2:g.143622177T>C | GRCh38 |
| NC_000006.11:g.143943314T>C , CM000668.1:g.143943314T>C | GRCh37 |
| NC_000006.10:g.143985007T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305766.10:c.13+13855T>C | ENSP00000305530.6:n.13+13855T>C | |
| ENST00000367584.8:c.217+84970T>C | ENSP00000356556.4:n.217+84970T>C | |
| ENST00000427704.6:c.13+13855T>C | ENSP00000391763.2:n.13+13855T>C | |
| NM_001100166.1:c.13+13855T>C | NP_001093636.1:n.13+13855T>C | |
| NM_014721.2:c.13+13855T>C | NP_055536.2:n.13+13855T>C | |
| NM_001100166.2:c.13+13855T>C | NP_001093636.1:n.13+13855T>C | |
| NM_014721.3:c.13+13855T>C | NP_055536.2:n.13+13855T>C | |
| NM_001394736.1:c.217+84970T>C | NP_001381665.1:n.217+84970T>C | |
| NM_001394738.1:c.13+13855T>C | NP_001381667.1:n.13+13855T>C | |
| NR_172204.1:n.143+13855T>C |