gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23069516 (AMR)
Genomes Max Group AF
0.23069516 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133870480C>T , CM000665.2:g.133870480C>T | GRCh38 |
| NC_000003.11:g.133589324C>T , CM000665.1:g.133589324C>T | GRCh37 |
| NC_000003.10:g.135072014C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285208.9:c.71-5838G>A MANE Select | ENSP00000285208.4:n.71-5838G>A | |
| ENST00000285208.8:c.71-5838G>A | ENSP00000285208.4:n.71-5838G>A | |
| ENST00000460865.3:c.-34+24917G>A | ENSP00000419526.3:n.-34+24917G>A | |
| ENST00000469959.1:c.71-5838G>A | ENSP00000418540.1:n.71-5838G>A | |
| ENST00000477759.5:c.-29-5838G>A | ENSP00000419941.1:n.-29-5838G>A | |
| ENST00000486858.5:c.32-5838G>A | ENSP00000419381.1:n.32-5838G>A | |
| ENST00000488969.1:c.-29-5838G>A | ENSP00000417433.1:n.-29-5838G>A | |
| ENST00000543906.5:c.71-5838G>A | ENSP00000437797.1:n.71-5838G>A | |
| NM_016577.3:c.71-5838G>A | NP_057661.3:n.71-5838G>A | |
| XM_011512893.1:c.32-5838G>A | XP_011511195.1:n.32-5838G>A | |
| NM_001363953.1:c.32-5838G>A | NP_001350882.1:n.32-5838G>A | |
| NM_016577.4:c.71-5838G>A MANE Select | NP_057661.3:n.71-5838G>A |