gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71427748 (AFR)
Genomes Max Group AF
0.7069963 (AFR)
Exomes Max Group AF
0.71871443 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.69235426C>T , CM000667.2:g.69235426C>T | GRCh38 |
| NC_000005.9:g.68531253C>T , CM000667.1:g.68531253C>T | GRCh37 |
| NC_000005.8:g.68567009C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256443.8:c.99C>T MANE Select | ENSP00000256443.3:p.Asn33= | |
| ENST00000256443.7:c.99C>T | ENSP00000256443.3:p.Asn33= | |
| ENST00000502604.5:c.-181C>T | ENSP00000422121.1:n.-181C>T | |
| ENST00000504147.5:c.99C>T | ENSP00000422027.1:p.Asn33= | |
| ENST00000506563.5:c.-181C>T | ENSP00000425043.1:n.-181C>T | |
| ENST00000506789.5:c.99C>T | ENSP00000425983.1:p.Asn33= | |
| ENST00000508726.5:c.99C>T | ENSP00000421559.1:p.Asn33= | |
| ENST00000510106.5:c.99C>T | ENSP00000426561.1:p.Asn33= | |
| ENST00000512687.5:n.214C>T | ||
| ENST00000512985.1:n.192C>T | ||
| ENST00000513629.1:n.284C>T | ||
| ENST00000514676.5:c.99C>T | ENSP00000422737.1:p.Asn33= | |
| ENST00000515180.5:c.99C>T | ENSP00000426372.1:p.Asn33= | |
| ENST00000515391.5:c.99C>T | ENSP00000425893.1:p.Asn33= | |
| ENST00000626796.2:c.99C>T | ENSP00000486415.1:p.Asn33= | |
| ENST00000628421.2:c.99C>T | ENSP00000486950.1:p.Asn33= | |
| ENST00000629350.2:c.99C>T | ENSP00000486479.1:p.Asn33= | |
| NM_001799.3:c.99C>T | NP_001790.1:p.Asn33= | |
| XM_005248398.3:c.65C>T | XP_005248455.1:p.Thr22Ile | |
| XM_011543093.1:c.99C>T | XP_011541395.1:p.Asn33= | |
| XM_011543094.1:c.-82C>T | XP_011541396.1:n.-82C>T | |
| NM_001324069.1:c.-112C>T | NP_001310998.1:n.-112C>T | |
| NM_001324070.1:c.99C>T | NP_001310999.1:p.Asn33= | |
| NM_001324071.1:c.65C>T | NP_001311000.1:p.Thr22Ile | |
| NM_001324072.1:c.-179C>T | NP_001311001.1:n.-179C>T | |
| NM_001324074.1:c.-147C>T | NP_001311003.1:n.-147C>T | |
| NM_001324075.1:c.-179C>T | NP_001311004.1:n.-179C>T | |
| NM_001324077.1:c.-181C>T | NP_001311006.1:n.-181C>T | |
| NM_001324078.1:c.-145C>T | NP_001311007.1:n.-145C>T | |
| NR_136690.1:n.280C>T | ||
| XM_011543094.2:c.-82C>T | XP_011541396.1:n.-82C>T | |
| NM_001799.4:c.99C>T MANE Select | NP_001790.1:p.Asn33= | |
| NM_001324069.2:c.-112C>T | NP_001310998.1:n.-112C>T | |
| NM_001324070.2:c.99C>T | NP_001310999.1:p.Asn33= | |
| NM_001324071.2:c.65C>T | NP_001311000.1:p.Thr22Ile | |
| NM_001324074.2:c.-147C>T | NP_001311003.1:n.-147C>T | |
| NM_001324075.2:c.-179C>T | NP_001311004.1:n.-179C>T | |
| NM_001324078.2:c.-145C>T | NP_001311007.1:n.-145C>T | |
| NR_136690.2:n.189C>T |