gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02712093 (AMR)
Genomes Max Group AF
0.02712093 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136683218G>A , CM000665.2:g.136683218G>A | GRCh38 |
| NC_000003.11:g.136402060G>A , CM000665.1:g.136402060G>A | GRCh37 |
| NC_000003.10:g.137884750G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383202.7:c.-83-52237C>T MANE Select | ENSP00000372689.2:n.-83-52237C>T | |
| ENST00000236698.9:c.-83-52237C>T | ENSP00000236698.5:n.-83-52237C>T | |
| ENST00000383202.6:c.-83-52237C>T | ENSP00000372689.2:n.-83-52237C>T | |
| ENST00000434713.6:c.-761-52237C>T | ENSP00000404396.2:n.-761-52237C>T | |
| ENST00000480733.1:c.-83-52237C>T | ENSP00000420789.1:n.-83-52237C>T | |
| ENST00000483235.5:c.-83-52237C>T | ENSP00000419093.1:n.-83-52237C>T | |
| ENST00000487065.5:c.-83-52237C>T | ENSP00000418472.1:n.-83-52237C>T | |
| ENST00000629124.2:c.-83-52237C>T | ENSP00000486745.1:n.-83-52237C>T | |
| NM_005862.2:c.-83-52237C>T | NP_005853.2:n.-83-52237C>T | |
| XM_011512329.1:c.-724-52237C>T | XP_011510631.1:n.-724-52237C>T | |
| XM_011512331.1:c.-619-52237C>T | XP_011510633.1:n.-619-52237C>T | |
| XM_011512329.2:c.-724-52237C>T | XP_011510631.1:n.-724-52237C>T | |
| XM_011512331.2:c.-619-52237C>T | XP_011510633.1:n.-619-52237C>T | |
| XM_017005523.1:c.-397-52237C>T | XP_016861012.1:n.-397-52237C>T | |
| XM_017005524.2:c.-826-52237C>T | XP_016861013.1:n.-826-52237C>T | |
| XR_001739978.1:n.196-52237C>T | ||
| NM_005862.3:c.-83-52237C>T MANE Select | NP_005853.2:n.-83-52237C>T |