gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04997484 (AFR)
Genomes Max Group AF
0.04997484 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.77586643T>A , CM000666.2:g.77586643T>A | GRCh38 |
| NC_000004.11:g.78507797T>A , CM000666.1:g.78507797T>A | GRCh37 |
| NC_000004.10:g.78726821T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286758.4:c.-42-19181T>A | ENSP00000286758.4:n.-42-19181T>A | |
| NM_006419.2:c.-42-19181T>A | NP_006410.1:n.-42-19181T>A | |
| XR_938912.1:n.1013A>T | ||
| XR_938913.1:n.930+1058A>T | ||
| XR_001741743.1:n.1605A>T | ||
| XR_938912.2:n.1889A>T | ||
| NM_006419.3:c.-42-19181T>A | NP_006410.1:n.-42-19181T>A |