gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81328322 (EAS)
Genomes Max Group AF
0.81328322 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180304014T>C , CM000667.2:g.180304014T>C | GRCh38 |
| NC_000005.9:g.179731014T>C , CM000667.1:g.179731014T>C | GRCh37 |
| NC_000005.8:g.179663620T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253778.13:c.1842+758A>G MANE Select | ENSP00000253778.8:n.1842+758A>G | |
| ENST00000253778.12:c.1842+758A>G | ENSP00000253778.8:n.1842+758A>G | |
| NM_005110.2:c.1842+758A>G | NP_005101.1:n.1842+758A>G | |
| XM_006714942.1:c.1842+758A>G | XP_006715005.1:n.1842+758A>G | |
| NM_005110.3:c.1842+758A>G | NP_005101.1:n.1842+758A>G | |
| XM_006714942.2:c.1842+758A>G | XP_006715005.1:n.1842+758A>G | |
| XM_017010100.2:c.1317+758A>G | XP_016865589.1:n.1317+758A>G | |
| XR_001742394.1:n.2366+758A>G | ||
| NM_005110.4:c.1842+758A>G MANE Select | NP_005101.1:n.1842+758A>G |