Linked Data
dbSNP Id:
rs200913680
gnomAD v2:
11-126144842-C-A
gnomAD v3:
11-126274947-C-A
gnomAD v4:
11-126274947-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126274947C>A , CM000673.2:g.126274947C>A | GRCh38 |
| NC_000011.9:g.126144842C>A , CM000673.1:g.126144842C>A | GRCh37 |
| NC_000011.8:g.125650052C>A | NCBI36 |
| NG_028029.1:g.10908C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.735C>A | ||
| ENST00000532101.6:n.734-380C>A | ||
| ENST00000532125.2:c.554C>A | ENSP00000434178.2:p.Ser185Tyr | |
| ENST00000533839.6:c.86-847C>A | ENSP00000509952.1:n.86-847C>A | |
| ENST00000534011.6:n.849C>A | ||
| ENST00000685484.1:c.557C>A | ENSP00000510622.1:p.Ser186Tyr | |
| ENST00000685601.1:c.557C>A | ENSP00000510603.1:p.Ser186Tyr | |
| ENST00000685765.1:c.557C>A | ENSP00000509991.1:p.Ser186Tyr | |
| ENST00000685844.1:c.*169-380C>A | ENSP00000509820.1:n.*169-380C>A | |
| ENST00000685857.1:n.991C>A | ||
| ENST00000686242.1:c.356C>A | ENSP00000508950.1:n.356C>A | |
| ENST00000686888.1:c.*124C>A | ENSP00000509619.1:n.*124C>A | |
| ENST00000687699.1:c.681C>A | ENSP00000508878.1:n.681C>A | |
| ENST00000687786.1:n.2068-380C>A | ||
| ENST00000688100.1:n.1478C>A | ||
| ENST00000688588.1:c.557C>A | ENSP00000510802.1:p.Ser186Tyr | |
| ENST00000688927.1:n.2463C>A | ||
| ENST00000689283.1:c.*220C>A | ENSP00000509050.1:n.*220C>A | |
| ENST00000689477.1:c.*450C>A | ENSP00000508945.1:n.*450C>A | |
| ENST00000689765.1:c.*169-424C>A | ENSP00000509625.1:n.*169-424C>A | |
| ENST00000690512.1:c.*408C>A | ENSP00000509793.1:n.*408C>A | |
| ENST00000692039.1:c.*355C>A | ENSP00000508821.1:n.*355C>A | |
| ENST00000692336.1:c.581C>A | ENSP00000508540.1:p.Ser194Tyr | |
| ENST00000693133.1:n.732C>A | ||
| ENST00000263578.10:c.557C>A MANE Select | ENSP00000263578.5:p.Ser186Tyr | |
| ENST00000263578.9:c.557C>A | ENSP00000263578.5:p.Ser186Tyr | |
| ENST00000524751.5:n.493C>A | ||
| ENST00000525083.5:n.352-380C>A | ||
| ENST00000525770.5:c.*189C>A | ENSP00000434739.1:n.*189C>A | |
| ENST00000526366.5:n.488C>A | ||
| ENST00000527004.5:c.534-380C>A | ENSP00000436374.1:n.534-380C>A | |
| ENST00000527875.1:n.387C>A | ||
| ENST00000530642.1:n.1034C>A | ||
| ENST00000532101.5:n.780C>A | ||
| ENST00000532125.1:c.515C>A | ENSP00000434178.1:p.Ser172Tyr | |
| ENST00000533395.5:n.365-380C>A | ||
| ENST00000533839.5:n.238-847C>A | ||
| ENST00000534011.5:n.609C>A | ||
| ENST00000534315.5:n.944-380C>A | ||
| NM_017547.3:c.557C>A | NP_060017.1:p.Ser186Tyr | |
| NR_037647.1:n.503C>A | ||
| NR_037648.1:n.743C>A | ||
| XM_006718879.2:c.47C>A | XP_006718942.1:p.Ser16Tyr | |
| XM_006718880.2:c.-2-380C>A | XP_006718943.1:n.-2-380C>A | |
| XM_006718881.2:c.-2-380C>A | XP_006718944.1:n.-2-380C>A | |
| XM_011542895.1:c.47C>A | XP_011541197.1:p.Ser16Tyr | |
| XM_011542896.1:c.47C>A | XP_011541198.1:p.Ser16Tyr | |
| XM_006718879.3:c.47C>A | XP_006718942.1:p.Ser16Tyr | |
| XM_006718881.3:c.-2-380C>A | XP_006718944.1:n.-2-380C>A | |
| XM_011542895.2:c.47C>A | XP_011541197.1:p.Ser16Tyr | |
| XM_011542896.2:c.47C>A | XP_011541198.1:p.Ser16Tyr | |
| XM_017018000.2:c.557C>A | XP_016873489.1:p.Ser186Tyr | |
| XM_017018001.1:c.47C>A | XP_016873490.1:p.Ser16Tyr | |
| XM_017018002.1:c.47C>A | XP_016873491.1:p.Ser16Tyr | |
| XM_017018003.2:c.-2-380C>A | XP_016873492.1:n.-2-380C>A | |
| XM_017018004.1:c.-2-380C>A | XP_016873493.1:n.-2-380C>A | |
| XM_017018005.1:c.-2-380C>A | XP_016873494.1:n.-2-380C>A | |
| XM_017018006.2:c.-2-380C>A | XP_016873495.1:n.-2-380C>A | |
| NM_017547.4:c.557C>A MANE Select | NP_060017.1:p.Ser186Tyr | |
| NR_037647.2:n.389C>A | ||
| NR_037648.2:n.734C>A |