Linked Data
dbSNP Id:
rs750019266
gnomAD v2:
11-126144856-G-T
gnomAD v3:
11-126274961-G-T
gnomAD v4:
11-126274961-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126274961G>T , CM000673.2:g.126274961G>T | GRCh38 |
| NC_000011.9:g.126144856G>T , CM000673.1:g.126144856G>T | GRCh37 |
| NC_000011.8:g.125650066G>T | NCBI36 |
| NG_028029.1:g.10922G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.749G>T | ||
| ENST00000532101.6:n.734-366G>T | ||
| ENST00000532125.2:c.568G>T | ENSP00000434178.2:p.Asp190Tyr | |
| ENST00000533839.6:c.86-833G>T | ENSP00000509952.1:n.86-833G>T | |
| ENST00000534011.6:n.863G>T | ||
| ENST00000685484.1:c.571G>T | ENSP00000510622.1:p.Asp191Tyr | |
| ENST00000685601.1:c.571G>T | ENSP00000510603.1:p.Asp191Tyr | |
| ENST00000685765.1:c.571G>T | ENSP00000509991.1:p.Asp191Tyr | |
| ENST00000685844.1:c.*169-366G>T | ENSP00000509820.1:n.*169-366G>T | |
| ENST00000685857.1:n.1005G>T | ||
| ENST00000686242.1:c.370G>T | ENSP00000508950.1:n.370G>T | |
| ENST00000686888.1:c.*138G>T | ENSP00000509619.1:n.*138G>T | |
| ENST00000687699.1:c.695G>T | ENSP00000508878.1:n.695G>T | |
| ENST00000687786.1:n.2068-366G>T | ||
| ENST00000688100.1:n.1492G>T | ||
| ENST00000688588.1:c.571G>T | ENSP00000510802.1:p.Asp191Tyr | |
| ENST00000688927.1:n.2477G>T | ||
| ENST00000689283.1:c.*234G>T | ENSP00000509050.1:n.*234G>T | |
| ENST00000689477.1:c.*464G>T | ENSP00000508945.1:n.*464G>T | |
| ENST00000689765.1:c.*169-410G>T | ENSP00000509625.1:n.*169-410G>T | |
| ENST00000690512.1:c.*422G>T | ENSP00000509793.1:n.*422G>T | |
| ENST00000692039.1:c.*369G>T | ENSP00000508821.1:n.*369G>T | |
| ENST00000692336.1:c.595G>T | ENSP00000508540.1:p.Asp199Tyr | |
| ENST00000693133.1:n.746G>T | ||
| ENST00000263578.10:c.571G>T MANE Select | ENSP00000263578.5:p.Asp191Tyr | |
| ENST00000263578.9:c.571G>T | ENSP00000263578.5:p.Asp191Tyr | |
| ENST00000524751.5:n.507G>T | ||
| ENST00000525083.5:n.352-366G>T | ||
| ENST00000525770.5:c.*203G>T | ENSP00000434739.1:n.*203G>T | |
| ENST00000526366.5:n.502G>T | ||
| ENST00000527004.5:c.534-366G>T | ENSP00000436374.1:n.534-366G>T | |
| ENST00000527875.1:n.401G>T | ||
| ENST00000530642.1:n.1048G>T | ||
| ENST00000532101.5:n.794G>T | ||
| ENST00000532125.1:c.529G>T | ENSP00000434178.1:p.Asp177Tyr | |
| ENST00000533395.5:n.365-366G>T | ||
| ENST00000533839.5:n.238-833G>T | ||
| ENST00000534011.5:n.623G>T | ||
| ENST00000534315.5:n.944-366G>T | ||
| NM_017547.3:c.571G>T | NP_060017.1:p.Asp191Tyr | |
| NR_037647.1:n.517G>T | ||
| NR_037648.1:n.757G>T | ||
| XM_006718879.2:c.61G>T | XP_006718942.1:p.Asp21Tyr | |
| XM_006718880.2:c.-2-366G>T | XP_006718943.1:n.-2-366G>T | |
| XM_006718881.2:c.-2-366G>T | XP_006718944.1:n.-2-366G>T | |
| XM_011542895.1:c.61G>T | XP_011541197.1:p.Asp21Tyr | |
| XM_011542896.1:c.61G>T | XP_011541198.1:p.Asp21Tyr | |
| XM_006718879.3:c.61G>T | XP_006718942.1:p.Asp21Tyr | |
| XM_006718881.3:c.-2-366G>T | XP_006718944.1:n.-2-366G>T | |
| XM_011542895.2:c.61G>T | XP_011541197.1:p.Asp21Tyr | |
| XM_011542896.2:c.61G>T | XP_011541198.1:p.Asp21Tyr | |
| XM_017018000.2:c.571G>T | XP_016873489.1:p.Asp191Tyr | |
| XM_017018001.1:c.61G>T | XP_016873490.1:p.Asp21Tyr | |
| XM_017018002.1:c.61G>T | XP_016873491.1:p.Asp21Tyr | |
| XM_017018003.2:c.-2-366G>T | XP_016873492.1:n.-2-366G>T | |
| XM_017018004.1:c.-2-366G>T | XP_016873493.1:n.-2-366G>T | |
| XM_017018005.1:c.-2-366G>T | XP_016873494.1:n.-2-366G>T | |
| XM_017018006.2:c.-2-366G>T | XP_016873495.1:n.-2-366G>T | |
| NM_017547.4:c.571G>T MANE Select | NP_060017.1:p.Asp191Tyr | |
| NR_037647.2:n.403G>T | ||
| NR_037648.2:n.748G>T |