gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34769621 (EAS)
Genomes Max Group AF
0.36907146 (EAS)
Exomes Max Group AF
0.34335523 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40560901T>C , CM000675.2:g.40560901T>C | GRCh38 |
| NC_000013.10:g.41135038T>C , CM000675.1:g.41135038T>C | GRCh37 |
| NC_000013.9:g.40033038T>C | NCBI36 |
| NG_023244.1:g.110697A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379561.6:c.631-41A>G MANE Select | ENSP00000368880.4:n.631-41A>G | |
| ENST00000655267.1:n.408-41A>G | ||
| ENST00000660760.1:n.398-41A>G | ||
| ENST00000379561.5:c.631-41A>G | ENSP00000368880.4:n.631-41A>G | |
| ENST00000473775.1:n.77-41A>G | ||
| NM_002015.3:c.631-41A>G | NP_002006.2:n.631-41A>G | |
| XM_011535008.1:c.88-41A>G | XP_011533310.1:n.88-41A>G | |
| XM_011535009.1:c.76-41A>G | XP_011533311.1:n.76-41A>G | |
| XM_011535010.1:c.-81-41A>G | XP_011533312.1:n.-81-41A>G | |
| XR_941536.1:n.1227-41A>G | ||
| XM_011535008.2:c.88-41A>G | XP_011533310.1:n.88-41A>G | |
| XM_011535010.2:c.-81-41A>G | XP_011533312.1:n.-81-41A>G | |
| NM_002015.4:c.631-41A>G MANE Select | NP_002006.2:n.631-41A>G |