gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97218125 (AFR)
Genomes Max Group AF
0.97218125 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.147650438C>T , CM000668.2:g.147650438C>T | GRCh38 |
| NC_000006.11:g.147971574C>T , CM000668.1:g.147971574C>T | GRCh37 |
| NC_000006.10:g.148013267C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000566741.1:c.163-86879C>T | ENSP00000456528.1:n.163-86879C>T | |
| XM_011535819.1:c.460-83291C>T | XP_011534121.1:n.460-83291C>T | |
| XM_017010850.1:c.459+141051C>T | XP_016866339.1:n.459+141051C>T |