gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4047179 (EAS)
Genomes Max Group AF
0.4047179 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.42049781C>T , CM000664.2:g.42049781C>T | GRCh38 |
| NC_000002.11:g.42276921C>T , CM000664.1:g.42276921C>T | GRCh37 |
| NC_000002.10:g.42130425C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294964.6:c.639+943C>T MANE Select | ENSP00000294964.5:n.639+943C>T | |
| ENST00000294964.5:c.639+943C>T | ENSP00000294964.5:n.639+943C>T | |
| ENST00000401498.6:c.497+943C>T | ENSP00000385220.2:n.497+943C>T | |
| ENST00000485578.1:n.260+943C>T | ||
| ENST00000492861.1:n.65+943C>T | ||
| NM_138370.2:c.639+943C>T | NP_612379.2:n.639+943C>T | |
| NM_138370.3:c.639+943C>T MANE Select | NP_612379.2:n.639+943C>T |