gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9709601 (NFE)
Genomes Max Group AF
0.9709601 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.41327628C>T , CM000674.2:g.41327628C>T | GRCh38 |
| NC_000012.11:g.41721430C>T , CM000674.1:g.41721430C>T | GRCh37 |
| NC_000012.10:g.40007697C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402685.7:c.843+133440C>T MANE Select | ENSP00000384197.2:n.843+133440C>T | |
| ENST00000402685.6:c.843+133440C>T | ENSP00000384197.2:n.843+133440C>T | |
| NM_001164595.1:c.843+133440C>T | NP_001158067.1:n.843+133440C>T | |
| XR_944528.1:n.1449+133440C>T | ||
| NM_001164595.2:c.843+133440C>T MANE Select | NP_001158067.1:n.843+133440C>T |