gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4370147 (EAS)
Genomes Max Group AF
0.4370147 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6087017C>A , CM000674.2:g.6087017C>A | GRCh38 |
| NC_000012.11:g.6196183C>A , CM000674.1:g.6196183C>A | GRCh37 |
| NC_000012.10:g.6066444C>A | NCBI36 |
| NG_009072.1:g.42654G>T | |
| NG_009072.2:g.42654G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.657+8443G>T MANE Select | ENSP00000261405.5:n.657+8443G>T | |
| ENST00000261405.9:c.657+8443G>T | ENSP00000261405.5:n.657+8443G>T | |
| ENST00000538635.5:n.420+23498G>T | ||
| NM_000552.3:c.657+8443G>T | NP_000543.2:n.657+8443G>T | |
| NM_000552.4:c.657+8443G>T | NP_000543.2:n.657+8443G>T | |
| NM_000552.5:c.657+8443G>T MANE Select | NP_000543.3:n.657+8443G>T |