Linked Data
dbSNP Id:
rs780166064
ExAC:
11:126144915 T / C
gnomAD v2:
11-126144915-T-C
gnomAD v3:
11-126275020-T-C
gnomAD v4:
11-126275020-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126275020T>C , CM000673.2:g.126275020T>C | GRCh38 |
| NC_000011.9:g.126144915T>C , CM000673.1:g.126144915T>C | GRCh37 |
| NC_000011.8:g.125650125T>C | NCBI36 |
| NG_028029.1:g.10981T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.808T>C | ||
| ENST00000532101.6:n.734-307T>C | ||
| ENST00000532125.2:c.627T>C | ENSP00000434178.2:p.Tyr209= | |
| ENST00000533839.6:c.86-774T>C | ENSP00000509952.1:n.86-774T>C | |
| ENST00000534011.6:n.922T>C | ||
| ENST00000685484.1:c.630T>C | ENSP00000510622.1:p.Tyr210= | |
| ENST00000685601.1:c.630T>C | ENSP00000510603.1:p.Tyr210= | |
| ENST00000685765.1:c.630T>C | ENSP00000509991.1:p.Tyr210= | |
| ENST00000685844.1:c.*169-307T>C | ENSP00000509820.1:n.*169-307T>C | |
| ENST00000685857.1:n.1064T>C | ||
| ENST00000686242.1:c.429T>C | ENSP00000508950.1:n.429T>C | |
| ENST00000686888.1:c.*197T>C | ENSP00000509619.1:n.*197T>C | |
| ENST00000687699.1:c.754T>C | ENSP00000508878.1:n.754T>C | |
| ENST00000687786.1:n.2068-307T>C | ||
| ENST00000688100.1:n.1551T>C | ||
| ENST00000688588.1:c.630T>C | ENSP00000510802.1:p.Tyr210= | |
| ENST00000688927.1:n.2536T>C | ||
| ENST00000689283.1:c.*293T>C | ENSP00000509050.1:n.*293T>C | |
| ENST00000689477.1:c.*523T>C | ENSP00000508945.1:n.*523T>C | |
| ENST00000689765.1:c.*169-351T>C | ENSP00000509625.1:n.*169-351T>C | |
| ENST00000690512.1:c.*481T>C | ENSP00000509793.1:n.*481T>C | |
| ENST00000692039.1:c.*428T>C | ENSP00000508821.1:n.*428T>C | |
| ENST00000692336.1:c.654T>C | ENSP00000508540.1:p.Tyr218= | |
| ENST00000693133.1:n.805T>C | ||
| ENST00000263578.10:c.630T>C MANE Select | ENSP00000263578.5:p.Tyr210= | |
| ENST00000263578.9:c.630T>C | ENSP00000263578.5:p.Tyr210= | |
| ENST00000524751.5:n.566T>C | ||
| ENST00000525083.5:n.352-307T>C | ||
| ENST00000525770.5:c.*262T>C | ENSP00000434739.1:n.*262T>C | |
| ENST00000527004.5:c.534-307T>C | ENSP00000436374.1:n.534-307T>C | |
| ENST00000527875.1:n.460T>C | ||
| ENST00000530642.1:n.1107T>C | ||
| ENST00000532101.5:n.853T>C | ||
| ENST00000532125.1:c.588T>C | ENSP00000434178.1:p.Tyr196= | |
| ENST00000533395.5:n.365-307T>C | ||
| ENST00000533839.5:n.238-774T>C | ||
| ENST00000534011.5:n.682T>C | ||
| ENST00000534315.5:n.944-307T>C | ||
| NM_017547.3:c.630T>C | NP_060017.1:p.Tyr210= | |
| NR_037647.1:n.576T>C | ||
| NR_037648.1:n.816T>C | ||
| XM_006718879.2:c.120T>C | XP_006718942.1:p.Tyr40= | |
| XM_006718880.2:c.-2-307T>C | XP_006718943.1:n.-2-307T>C | |
| XM_006718881.2:c.-2-307T>C | XP_006718944.1:n.-2-307T>C | |
| XM_011542895.1:c.120T>C | XP_011541197.1:p.Tyr40= | |
| XM_011542896.1:c.120T>C | XP_011541198.1:p.Tyr40= | |
| XM_006718879.3:c.120T>C | XP_006718942.1:p.Tyr40= | |
| XM_006718881.3:c.-2-307T>C | XP_006718944.1:n.-2-307T>C | |
| XM_011542895.2:c.120T>C | XP_011541197.1:p.Tyr40= | |
| XM_011542896.2:c.120T>C | XP_011541198.1:p.Tyr40= | |
| XM_017018000.2:c.630T>C | XP_016873489.1:p.Tyr210= | |
| XM_017018001.1:c.120T>C | XP_016873490.1:p.Tyr40= | |
| XM_017018002.1:c.120T>C | XP_016873491.1:p.Tyr40= | |
| XM_017018003.2:c.-2-307T>C | XP_016873492.1:n.-2-307T>C | |
| XM_017018004.1:c.-2-307T>C | XP_016873493.1:n.-2-307T>C | |
| XM_017018005.1:c.-2-307T>C | XP_016873494.1:n.-2-307T>C | |
| XM_017018006.2:c.-2-307T>C | XP_016873495.1:n.-2-307T>C | |
| NM_017547.4:c.630T>C MANE Select | NP_060017.1:p.Tyr210= | |
| NR_037647.2:n.462T>C | ||
| NR_037648.2:n.807T>C |