gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44661301 (EAS)
Genomes Max Group AF
0.44661301 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71948504C>T , CM000674.2:g.71948504C>T | GRCh38 |
| NC_000012.11:g.72342284C>T , CM000674.1:g.72342284C>T | GRCh37 |
| NC_000012.10:g.70628551C>T | NCBI36 |
| NG_008279.1:g.14659C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.541-1084C>T MANE Select | ENSP00000329093.3:n.541-1084C>T | |
| ENST00000333850.3:c.541-1084C>T | ENSP00000329093.3:n.541-1084C>T | |
| ENST00000546576.1:n.551-1084C>T | ||
| NM_173353.3:c.541-1084C>T | NP_775489.2:n.541-1084C>T | |
| XM_011537899.1:c.-55+500C>T | XP_011536201.1:n.-55+500C>T | |
| XR_245894.2:n.641-1084C>T | ||
| XR_001748575.1:n.641-1084C>T | ||
| NM_173353.4:c.541-1084C>T MANE Select | NP_775489.2:n.541-1084C>T |