gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28306709 (MID)
Genomes Max Group AF
0.26714393 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43937043C>T , CM000668.2:g.43937043C>T | GRCh38 |
| NC_000006.11:g.43904780C>T , CM000668.1:g.43904780C>T | GRCh37 |
| NC_000006.10:g.44012758C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024478.1:n.1118C>T (LINC01512) | ||
| NM_001318876.2:c.945+407772C>T (POLR1C) | NP_001305805.1:n.945+407772C>T |