gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81036633 (EAS)
Genomes Max Group AF
0.81036633 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17681211T>C , CM000666.2:g.17681211T>C | GRCh38 |
| NC_000004.11:g.17682834T>C , CM000666.1:g.17682834T>C | GRCh37 |
| NC_000004.10:g.17291932T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265018.4:c.1596+7213A>G MANE Select | ENSP00000265018.3:n.1596+7213A>G | |
| ENST00000265018.3:c.1596+7213A>G | ENSP00000265018.3:n.1596+7213A>G | |
| NM_015688.1:c.1596+7213A>G | NP_056503.1:n.1596+7213A>G | |
| XM_011513834.1:c.1596+7213A>G | XP_011512136.1:n.1596+7213A>G | |
| NM_015688.2:c.1596+7213A>G MANE Select | NP_056503.1:n.1596+7213A>G |