gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71268735 (EAS)
Genomes Max Group AF
0.71268735 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40565575T>C , CM000675.2:g.40565575T>C | GRCh38 |
| NC_000013.10:g.41139712T>C , CM000675.1:g.41139712T>C | GRCh37 |
| NC_000013.9:g.40037712T>C | NCBI36 |
| NG_023244.1:g.106023A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379561.6:c.631-4715A>G MANE Select | ENSP00000368880.4:n.631-4715A>G | |
| ENST00000655267.1:n.334-2813A>G | ||
| ENST00000660760.1:n.398-4715A>G | ||
| ENST00000379561.5:c.631-4715A>G | ENSP00000368880.4:n.631-4715A>G | |
| NM_002015.3:c.631-4715A>G | NP_002006.2:n.631-4715A>G | |
| XM_011535008.1:c.88-4715A>G | XP_011533310.1:n.88-4715A>G | |
| XM_011535009.1:c.76-4715A>G | XP_011533311.1:n.76-4715A>G | |
| XR_941536.1:n.1227-4715A>G | ||
| XM_011535008.2:c.88-4715A>G | XP_011533310.1:n.88-4715A>G | |
| XM_011535010.2:c.-2968A>G | XP_011533312.1:n.-2968A>G | |
| NM_002015.4:c.631-4715A>G MANE Select | NP_002006.2:n.631-4715A>G |