gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3399412 (AFR)
Genomes Max Group AF
0.3399412 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.116392141G>T , CM000667.2:g.116392141G>T | GRCh38 |
| NC_000005.9:g.115727838G>T , CM000667.1:g.115727838G>T | GRCh37 |
| NC_000005.8:g.115755737G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503424.1:n.582-7341G>T | ||
| XR_948268.1:n.1205-7341G>T | ||
| XR_948269.1:n.1209-7341G>T | ||
| XR_948270.1:n.1034-7341G>T | ||
| XM_017009557.1:c.177-7341G>T | XP_016865046.1:n.177-7341G>T | |
| XR_001742095.2:n.6342-7341G>T | ||
| XR_001742096.2:n.6346-7341G>T | ||
| XR_001742099.2:n.6261-7341G>T | ||
| XR_002956162.1:n.1034-54023G>T | ||
| XR_948270.2:n.1034-7341G>T |