gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70872978 (NFE)
Genomes Max Group AF
0.70872978 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27489253A>G , CM000671.2:g.27489253A>G | GRCh38 |
| NC_000009.11:g.27489251A>G , CM000671.1:g.27489251A>G | GRCh37 |
| NC_000009.10:g.27479251A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262244.6:c.-198-33505T>C MANE Select | ENSP00000262244.5:n.-198-33505T>C | |
| ENST00000262244.5:c.-198-33505T>C | ENSP00000262244.5:n.-198-33505T>C | |
| NM_024761.4:c.-198-33505T>C | NP_079037.3:n.-198-33505T>C | |
| NM_024761.5:c.-198-33505T>C MANE Select | NP_079037.3:n.-198-33505T>C |