gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3990748 (NFE)
Genomes Max Group AF
0.3990748 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112782395G>A , CM000664.2:g.112782395G>A | GRCh38 |
| NC_000002.11:g.113539972G>A , CM000664.1:g.113539972G>A | GRCh37 |
| NC_000002.10:g.113256443G>A | NCBI36 |
| NG_008850.1:g.8000C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263339.4:c.96+321C>T MANE Select | ENSP00000263339.3:n.96+321C>T | |
| ENST00000263339.3:c.96+321C>T | ENSP00000263339.3:n.96+321C>T | |
| NM_000575.3:c.96+321C>T | NP_000566.3:n.96+321C>T | |
| NM_000575.4:c.96+321C>T | NP_000566.3:n.96+321C>T | |
| NM_000575.5:c.96+321C>T MANE Select | NP_000566.3:n.96+321C>T | |
| NM_001371554.1:c.96+321C>T | NP_001358483.1:n.96+321C>T |