gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12264375 (NFE)
Genomes Max Group AF
0.12264375 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202888349T>C , CM000664.2:g.202888349T>C | GRCh38 |
| NC_000002.11:g.203753072T>C , CM000664.1:g.203753072T>C | GRCh37 |
| NC_000002.10:g.203461317T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688520.1:c.742-3814A>G | ENSP00000509107.1:n.742-3814A>G | |
| ENST00000261015.5:c.742-3814A>G MANE Select | ENSP00000261015.4:n.742-3814A>G | |
| ENST00000261015.4:c.742-3814A>G | ENSP00000261015.3:n.742-3814A>G | |
| ENST00000475611.1:n.272-3814A>G | ||
| ENST00000477727.5:n.59-3814A>G | ||
| NM_018256.3:c.742-3814A>G | NP_060726.3:n.742-3814A>G | |
| XM_011511469.1:c.328-3814A>G | XP_011509771.1:n.328-3814A>G | |
| XM_011511469.3:c.328-3814A>G | XP_011509771.1:n.328-3814A>G | |
| NM_001371664.1:c.328-3814A>G | NP_001358593.1:n.328-3814A>G | |
| NM_018256.4:c.742-3814A>G MANE Select | NP_060726.3:n.742-3814A>G |