dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30001092 (SAS)
Genomes Max Group AF
0.30001092 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4334346C>A , CM000665.2:g.4334346C>A | GRCh38 |
| NC_000003.11:g.4376030C>A , CM000665.1:g.4376030C>A | GRCh37 |
| NC_000003.10:g.4351030C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448413.5:c.1014+41984G>T | ENSP00000404384.1:n.1014+41984G>T | |
| XM_011533623.1:c.1014+41984G>T | XP_011531925.1:n.1014+41984G>T | |
| XM_011533624.1:c.1014+41984G>T | XP_011531926.1:n.1014+41984G>T | |
| XM_011533625.1:c.1015-29744G>T | XP_011531927.1:n.1015-29744G>T | |
| XM_011533624.3:c.1014+41984G>T | XP_011531926.1:n.1014+41984G>T | |
| XM_011533625.3:c.1015-29744G>T | XP_011531927.1:n.1015-29744G>T | |
| XM_017006252.2:c.954+76519G>T | XP_016861741.1:n.954+76519G>T | |
| XM_017006253.1:c.939+41984G>T | XP_016861742.1:n.939+41984G>T | |
| XM_017006254.2:c.1014+41984G>T | XP_016861743.1:n.1014+41984G>T | |
| XM_017006255.2:c.1015-22843G>T | XP_016861744.1:n.1015-22843G>T |