gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99129789 (EAS)
Genomes Max Group AF
0.97684661 (EAS)
Exomes Max Group AF
0.99068816 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10491504A>C , CM000681.2:g.10491504A>C | GRCh38 |
| NC_000019.9:g.10602180A>C , CM000681.1:g.10602180A>C | GRCh37 |
| NC_000019.8:g.10463180A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000171111.10:c.1325+73T>G MANE Select | ENSP00000171111.4:n.1325+73T>G | |
| ENST00000171111.9:c.1325+73T>G | ENSP00000171111.4:n.1325+73T>G | |
| ENST00000393623.6:c.1325+73T>G | ENSP00000377245.1:n.1325+73T>G | |
| ENST00000590593.1:c.304+73T>G | ||
| ENST00000592478.5:c.144+73T>G | ||
| NM_012289.3:c.1325+73T>G | NP_036421.2:n.1325+73T>G | |
| NM_203500.1:c.1325+73T>G | NP_987096.1:n.1325+73T>G | |
| XM_005260173.1:c.1325+73T>G | XP_005260230.1:n.1325+73T>G | |
| XM_005260174.1:c.1325+73T>G | XP_005260231.1:n.1325+73T>G | |
| XM_011528452.1:c.1325+73T>G | XP_011526754.1:n.1325+73T>G | |
| NM_203500.2:c.1325+73T>G MANE Select | NP_987096.1:n.1325+73T>G | |
| NM_012289.4:c.1325+73T>G | NP_036421.2:n.1325+73T>G |