Linked Data
dbSNP Id:
rs770635971
ExAC:
3:9517268 T / C
gnomAD v2:
3-9517268-T-C
gnomAD v4:
3-9475584-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9475584T>C , CM000665.2:g.9475584T>C | GRCh38 |
| NC_000003.11:g.9517268T>C , CM000665.1:g.9517268T>C | GRCh37 |
| NC_000003.10:g.9492268T>C | NCBI36 |
| NG_034132.1:g.82885T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682236.1:n.2777T>C | ||
| ENST00000682536.1:c.3918T>C | ENSP00000507956.1:p.Tyr1306= | |
| ENST00000687014.1:n.4811T>C | ||
| ENST00000689167.1:n.2202T>C | ||
| ENST00000691925.1:n.6619T>C | ||
| ENST00000693430.1:n.6064T>C | ||
| ENST00000402198.7:c.3822T>C MANE Select | ENSP00000385852.2:p.Tyr1274= | |
| ENST00000663774.1:c.*3968T>C | ENSP00000499452.1:n.*3968T>C | |
| ENST00000665872.1:c.*3891T>C | ENSP00000499600.1:n.*3891T>C | |
| ENST00000666307.1:c.*4196T>C | ENSP00000499402.1:n.*4196T>C | |
| ENST00000670063.1:c.*3927T>C | ENSP00000499725.1:n.*3927T>C | |
| ENST00000302463.10:c.3528T>C | ENSP00000302028.6:p.Tyr1176= | |
| ENST00000399686.6:c.2722+428T>C | ||
| ENST00000402198.5:c.3822T>C | ENSP00000385852.1:p.Tyr1274= | |
| ENST00000406341.5:c.3822T>C | ENSP00000383939.1:p.Tyr1274= | |
| ENST00000407969.5:c.3879T>C | ENSP00000384114.1:p.Tyr1293= | |
| ENST00000413704.5:c.2858T>C | ||
| ENST00000459941.1:n.953T>C | ||
| ENST00000466242.5:n.3163T>C | ||
| ENST00000466826.1:n.209T>C | ||
| ENST00000493918.5:n.3986T>C | ||
| NM_001080517.2:c.3822T>C | NP_001073986.1:p.Tyr1274= | |
| NM_001292043.1:c.3528T>C | NP_001278972.1:p.Tyr1176= | |
| XM_005265301.1:c.3879T>C | XP_005265358.1:p.Tyr1293= | |
| XM_005265303.1:c.3822T>C | XP_005265360.1:p.Tyr1274= | |
| XM_011533920.1:c.3996T>C | XP_011532222.1:p.Tyr1332= | |
| XM_011533921.1:c.3996T>C | XP_011532223.1:p.Tyr1332= | |
| XM_011533922.1:c.3975T>C | XP_011532224.1:p.Tyr1325= | |
| XM_011533923.1:c.3975T>C | XP_011532225.1:p.Tyr1325= | |
| XM_011533924.1:c.3975T>C | XP_011532226.1:p.Tyr1325= | |
| XM_011533925.1:c.3957T>C | XP_011532227.1:p.Tyr1319= | |
| XM_011533926.1:c.3939T>C | XP_011532228.1:p.Tyr1313= | |
| XM_011533927.1:c.3939T>C | XP_011532229.1:p.Tyr1313= | |
| XM_011533928.1:c.3918T>C | XP_011532230.1:p.Tyr1306= | |
| XM_011533929.1:c.3900T>C | XP_011532231.1:p.Tyr1300= | |
| XM_011533930.1:c.3861T>C | XP_011532232.1:p.Tyr1287= | |
| XM_011533931.1:c.3585T>C | XP_011532233.1:p.Tyr1195= | |
| XM_011533932.1:c.3546T>C | XP_011532234.1:p.Tyr1182= | |
| XM_011533933.1:c.3546T>C | XP_011532235.1:p.Tyr1182= | |
| NM_001349451.1:c.3528T>C | NP_001336380.1:p.Tyr1176= | |
| XM_011533921.2:c.3996T>C | XP_011532223.1:p.Tyr1332= | |
| XM_017006767.1:c.3996T>C | XP_016862256.1:p.Tyr1332= | |
| XM_017006768.2:c.3975T>C | XP_016862257.1:p.Tyr1325= | |
| XM_017006770.1:c.3939T>C | XP_016862259.1:p.Tyr1313= | |
| XM_017006771.1:c.3936T>C | XP_016862260.1:p.Tyr1312= | |
| XM_017006772.1:c.3900T>C | XP_016862261.1:p.Tyr1300= | |
| XM_017006773.1:c.3900T>C | XP_016862262.1:p.Tyr1300= | |
| XM_017006774.1:c.3879T>C | XP_016862263.1:p.Tyr1293= | |
| XM_017006775.1:c.3843T>C | XP_016862264.1:p.Tyr1281= | |
| XM_017006776.1:c.3585T>C | XP_016862265.1:p.Tyr1195= | |
| XM_017006777.1:c.3585T>C | XP_016862266.1:p.Tyr1195= | |
| XM_017006778.1:c.3585T>C | XP_016862267.1:p.Tyr1195= | |
| XM_017006779.1:c.3546T>C | XP_016862268.1:p.Tyr1182= | |
| XM_017006780.1:c.3546T>C | XP_016862269.1:p.Tyr1182= | |
| XM_017006783.1:c.3318T>C | XP_016862272.1:p.Tyr1106= | |
| XM_024453620.1:c.3957T>C | XP_024309388.1:p.Tyr1319= | |
| XM_024453621.1:c.3633T>C | XP_024309389.1:p.Tyr1211= | |
| XR_001740195.2:n.8205T>C | ||
| NM_001080517.3:c.3822T>C MANE Select | NP_001073986.1:p.Tyr1274= | |
| NM_001292043.2:c.3528T>C | NP_001278972.1:p.Tyr1176= | |
| NM_001349451.2:c.3528T>C | NP_001336380.1:p.Tyr1176= |