gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23500515 (AMR)
Genomes Max Group AF
0.23500515 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58343384C>A , CM000677.2:g.58343384C>A | GRCh38 |
| NC_000015.9:g.58635583C>A , CM000677.1:g.58635583C>A | GRCh37 |
| NC_000015.8:g.56422875C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558239.5:c.-172+76587G>T | ENSP00000453292.1:n.-172+76587G>T | |
| ENST00000560863.5:n.415+76587G>T | ||
| XR_429537.2:n.654G>T | ||
| XR_001751556.2:n.216+76587G>T | ||
| XR_001751557.2:n.216+76587G>T | ||
| XR_001751558.2:n.216+76587G>T | ||
| XR_001751559.2:n.216+76587G>T | ||
| XR_001751560.2:n.216+76587G>T | ||
| XR_001751563.2:n.319+387G>T | ||
| XR_429537.4:n.706G>T |