gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36127803 (EAS)
Genomes Max Group AF
0.36127803 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.3087948T>C , CM000665.2:g.3087948T>C | GRCh38 |
| NC_000003.11:g.3129632T>C , CM000665.1:g.3129632T>C | GRCh37 |
| NC_000003.10:g.3104632T>C | NCBI36 |
| NG_029547.1:g.27427A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446632.7:c.994+4276A>G MANE Select | ENSP00000412209.2:n.994+4276A>G | |
| ENST00000256452.7:c.994+4276A>G | ENSP00000256452.3:n.994+4276A>G | |
| ENST00000418488.6:c.709+9922A>G | ENSP00000388858.2:n.709+9922A>G | |
| ENST00000438560.5:c.994+4276A>G | ENSP00000390753.1:n.994+4276A>G | |
| ENST00000446632.6:c.994+4276A>G | ENSP00000412209.2:n.994+4276A>G | |
| NM_000564.4:c.994+4276A>G | NP_000555.2:n.994+4276A>G | |
| NM_001243099.1:c.994+4276A>G | NP_001230028.1:n.994+4276A>G | |
| NM_175726.3:c.994+4276A>G | NP_783853.1:n.994+4276A>G | |
| XM_011533677.1:c.994+4276A>G | XP_011531979.1:n.994+4276A>G | |
| XM_011533678.1:c.994+4276A>G | XP_011531980.1:n.994+4276A>G | |
| XM_011533677.2:c.994+4276A>G | XP_011531979.1:n.994+4276A>G | |
| XM_011533678.2:c.994+4276A>G | XP_011531980.1:n.994+4276A>G | |
| NM_000564.5:c.994+4276A>G | NP_000555.2:n.994+4276A>G | |
| NM_001243099.2:c.994+4276A>G | NP_001230028.1:n.994+4276A>G | |
| NM_175726.4:c.994+4276A>G MANE Select | NP_783853.1:n.994+4276A>G |