gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36556381 (EAS)
Genomes Max Group AF
0.36556381 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4779740G>C , CM000679.2:g.4779740G>C | GRCh38 |
| NC_000017.10:g.4683035G>C , CM000679.1:g.4683035G>C | GRCh37 |
| NC_000017.9:g.4629784G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270560.4:c.178-1049G>C MANE Select | ENSP00000270560.3:n.178-1049G>C | |
| ENST00000270560.3:c.178-1049G>C | ENSP00000270560.3:n.178-1049G>C | |
| ENST00000576530.2:n.217-1049G>C | ||
| NM_003963.2:c.178-1049G>C | NP_003954.2:n.178-1049G>C | |
| NM_003963.3:c.178-1049G>C MANE Select | NP_003954.2:n.178-1049G>C |