gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9150833 (NFE)
Genomes Max Group AF
0.90503858 (NFE)
Exomes Max Group AF
0.91537578 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171787719T>C , CM000664.2:g.171787719T>C | GRCh38 |
| NC_000002.11:g.172644229T>C , CM000664.1:g.172644229T>C | GRCh37 |
| NC_000002.10:g.172352475T>C | NCBI36 |
| NG_011781.1:g.111585A>G | |
| NG_011781.2:g.111585A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422440.7:c.1745-58A>G MANE Select | ENSP00000388658.2:n.1745-58A>G | |
| ENST00000263812.8:c.*1365-58A>G | ENSP00000263812.4:n.*1365-58A>G | |
| ENST00000422440.6:c.1745-58A>G | ENSP00000388658.2:n.1745-58A>G | |
| ENST00000472070.1:n.1155-58A>G | ||
| NM_003705.4:c.1745-58A>G | NP_003696.2:n.1745-58A>G | |
| NR_047549.1:n.1721-58A>G | ||
| XM_005246923.3:c.1694-58A>G | XP_005246980.1:n.1694-58A>G | |
| XM_011512069.1:c.1744+70A>G | XP_011510371.1:n.1744+70A>G | |
| XM_011512070.1:c.1472-58A>G | XP_011510372.1:n.1472-58A>G | |
| XR_923577.1:n.2692-5805T>C | ||
| XM_011512070.3:c.1472-58A>G | XP_011510372.1:n.1472-58A>G | |
| NM_003705.5:c.1745-58A>G MANE Select | NP_003696.2:n.1745-58A>G | |
| NR_047549.2:n.1659-58A>G |