gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008444 (SAS)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00008889 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44262928C>T , CM000679.2:g.44262928C>T | GRCh38 |
| NC_000017.10:g.42340296C>T , CM000679.1:g.42340296C>T | GRCh37 |
| NC_000017.9:g.39695822C>T | NCBI36 |
| NG_007498.1:g.10207G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.-62G>A MANE Select | ENSP00000262418.6:n.-62G>A | |
| ENST00000262418.10:c.-62G>A | ENSP00000262418.6:n.-62G>A | |
| ENST00000399246.3:c.-62G>A | ENSP00000382190.3:n.-62G>A | |
| ENST00000497360.5:n.78G>A | ||
| ENST00000498270.1:n.95G>A | ||
| NM_000342.3:c.-62G>A | NP_000333.1:n.-62G>A | |
| XM_011525129.1:c.-62G>A | XP_011523431.1:n.-62G>A | |
| XM_011525130.1:c.-62G>A | XP_011523432.1:n.-62G>A | |
| XM_011525131.1:c.-62G>A | XP_011523433.1:n.-62G>A | |
| XM_011525129.2:c.-62G>A | XP_011523431.1:n.-62G>A | |
| NM_000342.4:c.-62G>A MANE Select | NP_000333.1:n.-62G>A |