gnomAD v3:
gnomAD v4:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126277071C>T , CM000673.2:g.126277071C>T | GRCh38 |
| NC_000011.9:g.126146966C>T , CM000673.1:g.126146966C>T | GRCh37 |
| NC_000011.8:g.125652176C>T | NCBI36 |
| NG_028029.1:g.13032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.1585C>T | ||
| ENST00000532101.6:n.1231C>T | ||
| ENST00000532125.2:c.1099C>T | ENSP00000434178.2:p.Gln367Ter | |
| ENST00000533839.6:c.454C>T | ENSP00000509952.1:p.Gln152Ter | |
| ENST00000534011.6:n.1335C>T | ||
| ENST00000685484.1:c.1102C>T | ENSP00000510622.1:p.Gln368Ter | |
| ENST00000685601.1:c.*154C>T | ENSP00000510603.1:n.*154C>T | |
| ENST00000685765.1:c.*90C>T | ENSP00000509991.1:n.*90C>T | |
| ENST00000685844.1:c.*712C>T | ENSP00000509820.1:n.*712C>T | |
| ENST00000685857.1:n.2206C>T | ||
| ENST00000686242.1:c.901C>T | ENSP00000508950.1:n.901C>T | |
| ENST00000686888.1:c.*669C>T | ENSP00000509619.1:n.*669C>T | |
| ENST00000687699.1:c.1226C>T | ENSP00000508878.1:n.1226C>T | |
| ENST00000687786.1:n.2538C>T | ||
| ENST00000688100.1:n.1995C>T | ||
| ENST00000688588.1:c.972C>T | ENSP00000510802.1:p.Ser324= | |
| ENST00000688927.1:n.3313C>T | ||
| ENST00000689283.1:c.*765C>T | ENSP00000509050.1:n.*765C>T | |
| ENST00000689477.1:c.*995C>T | ENSP00000508945.1:n.*995C>T | |
| ENST00000689765.1:c.*595C>T | ENSP00000509625.1:n.*595C>T | |
| ENST00000690512.1:c.*953C>T | ENSP00000509793.1:n.*953C>T | |
| ENST00000692039.1:c.*927C>T | ENSP00000508821.1:n.*927C>T | |
| ENST00000692336.1:c.1126C>T | ENSP00000508540.1:p.Gln376Ter | |
| ENST00000693133.1:n.1947C>T | ||
| ENST00000263578.10:c.1102C>T MANE Select | ENSP00000263578.5:p.Gln368Ter | |
| ENST00000263578.9:c.1102C>T | ENSP00000263578.5:p.Gln368Ter | |
| ENST00000525083.5:n.895C>T | ||
| ENST00000525770.5:c.*734C>T | ENSP00000434739.1:n.*734C>T | |
| ENST00000527004.5:c.*446C>T | ENSP00000436374.1:n.*446C>T | |
| ENST00000530642.1:n.2249C>T | ||
| ENST00000532125.1:c.1060C>T | ENSP00000434178.1:p.Gln354Ter | |
| ENST00000532590.1:n.160C>T | ||
| ENST00000534011.5:n.1154C>T | ||
| ENST00000534315.5:n.1414C>T | ||
| NM_017547.3:c.1102C>T | NP_060017.1:p.Gln368Ter | |
| NR_037647.1:n.1048C>T | ||
| NR_037648.1:n.1288C>T | ||
| XM_006718879.2:c.592C>T | XP_006718942.1:p.Gln198Ter | |
| XM_006718880.2:c.469C>T | XP_006718943.1:p.Gln157Ter | |
| XM_006718881.2:c.469C>T | XP_006718944.1:p.Gln157Ter | |
| XM_011542895.1:c.592C>T | XP_011541197.1:p.Gln198Ter | |
| XM_011542896.1:c.592C>T | XP_011541198.1:p.Gln198Ter | |
| XM_006718879.3:c.592C>T | XP_006718942.1:p.Gln198Ter | |
| XM_006718881.3:c.469C>T | XP_006718944.1:p.Gln157Ter | |
| XM_011542895.2:c.592C>T | XP_011541197.1:p.Gln198Ter | |
| XM_011542896.2:c.592C>T | XP_011541198.1:p.Gln198Ter | |
| XM_017018000.2:c.1102-3C>T | XP_016873489.1:n.1102-3C>T | |
| XM_017018001.1:c.592C>T | XP_016873490.1:p.Gln198Ter | |
| XM_017018002.1:c.592C>T | XP_016873491.1:p.Gln198Ter | |
| XM_017018003.2:c.469C>T | XP_016873492.1:p.Gln157Ter | |
| XM_017018004.1:c.469C>T | XP_016873493.1:p.Gln157Ter | |
| XM_017018005.1:c.469C>T | XP_016873494.1:p.Gln157Ter | |
| XM_017018006.2:c.469-3C>T | XP_016873495.1:n.469-3C>T | |
| NM_017547.4:c.1102C>T MANE Select | NP_060017.1:p.Gln368Ter | |
| NR_037647.2:n.934C>T | ||
| NR_037648.2:n.1279C>T |