gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87502317 (AFR)
Genomes Max Group AF
0.87502317 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.57995793T>C , CM000664.2:g.57995793T>C | GRCh38 |
| NC_000002.11:g.58222928T>C , CM000664.1:g.58222928T>C | GRCh37 |
| NC_000002.10:g.58076432T>C | NCBI36 |
| NG_029717.2:g.93053T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648897.1:c.-728-22223T>C | ENSP00000497378.1:n.-728-22223T>C | |
| ENST00000417641.6:c.-438-29872T>C | ENSP00000402375.2:n.-438-29872T>C | |
| ENST00000435505.6:c.-556-29872T>C | ENSP00000408002.2:n.-556-29872T>C | |
| ENST00000463222.1:n.185-29872T>C | ||
| ENST00000478687.5:n.189-22223T>C | ||
| NM_001288837.1:c.-556-29872T>C | NP_001275766.1:n.-556-29872T>C | |
| NM_001288838.1:c.-438-29872T>C | NP_001275767.1:n.-438-29872T>C | |
| XR_940118.1:n.240+45126A>G | ||
| XR_940119.1:n.240+45126A>G | ||
| XR_940120.1:n.213+45153A>G | ||
| XR_940121.1:n.354+45126A>G | ||
| XR_940122.1:n.249+45126A>G | ||
| NM_001288837.2:c.-556-29872T>C | NP_001275766.1:n.-556-29872T>C | |
| NM_001288838.2:c.-438-29872T>C | NP_001275767.1:n.-438-29872T>C |