gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75462515 (EAS)
Genomes Max Group AF
0.75462515 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114362169G>A , CM000674.2:g.114362169G>A | GRCh38 |
| NC_000012.11:g.114799974G>A , CM000674.1:g.114799974G>A | GRCh37 |
| NC_000012.10:g.113284357G>A | NCBI36 |
| NG_007373.1:g.51274C>T , LRG_670:g.51274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405440.7:c.982+3996C>T MANE Select | ENSP00000384152.3:n.982+3996C>T | |
| ENST00000310346.8:c.982+3996C>T | ENSP00000309913.4:n.982+3996C>T | |
| ENST00000349716.9:c.832+3996C>T | ENSP00000337723.5:n.832+3996C>T | |
| ENST00000405440.6:c.982+3996C>T | ENSP00000384152.2:n.982+3996C>T | |
| NM_000192.3:c.982+3996C>T , LRG_670t1:c.982+3996C>T | NP_000183.2:n.982+3996C>T | |
| NM_080717.2:c.832+3996C>T | NP_542448.1:n.832+3996C>T | |
| NM_181486.2:c.982+3996C>T | NP_852259.1:n.982+3996C>T | |
| XM_017019912.1:c.1030+3996C>T | XP_016875401.1:n.1030+3996C>T | |
| NM_080717.3:c.832+3996C>T | NP_542448.1:n.832+3996C>T | |
| NM_181486.4:c.982+3996C>T MANE Select | NP_852259.1:n.982+3996C>T | |
| NM_080717.4:c.832+3996C>T | NP_542448.1:n.832+3996C>T |