gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42581076 (EAS)
Genomes Max Group AF
0.42581076 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76348912C>A , CM000669.2:g.76348912C>A | GRCh38 |
| NC_000007.13:g.75978229C>A , CM000669.1:g.75978229C>A | GRCh37 |
| NC_000007.12:g.75816165C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307630.5:c.87+9810G>T MANE Select | ENSP00000306330.3:n.87+9810G>T | |
| ENST00000307630.4:c.87+9810G>T | ENSP00000306330.3:n.87+9810G>T | |
| NM_012479.3:c.87+9810G>T | NP_036611.2:n.87+9810G>T | |
| NM_012479.4:c.87+9810G>T MANE Select | NP_036611.2:n.87+9810G>T |