gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33688497 (NFE)
Genomes Max Group AF
0.33688497 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111072304C>T , CM000667.2:g.111072304C>T | GRCh38 |
| NC_000005.9:g.110408002C>T , CM000667.1:g.110408002C>T | GRCh37 |
| NC_000005.8:g.110435901C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.171+243C>T MANE Select | ENSP00000339804.3:n.171+243C>T | |
| ENST00000344895.3:c.171+243C>T | ENSP00000339804.3:n.171+243C>T | |
| ENST00000420978.6:c.171+243C>T | ENSP00000399099.2:n.171+243C>T | |
| NM_033035.4:c.171+243C>T | NP_149024.1:n.171+243C>T | |
| NR_045089.1:n.1575+243C>T | ||
| NM_033035.5:c.171+243C>T MANE Select | NP_149024.1:n.171+243C>T | |
| NR_045089.2:n.1593+243C>T |