Linked Data
dbSNP Id:
rs114509391
ExAC:
17:37947793 A / C
gnomAD v2:
17-37947793-A-C
gnomAD v3:
17-39791540-A-C
gnomAD v4:
17-39791540-A-C
COSMIC:
COSM4000122
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39791540A>C , CM000679.2:g.39791540A>C | GRCh38 |
| NC_000017.10:g.37947793A>C , CM000679.1:g.37947793A>C | GRCh37 |
| NC_000017.9:g.35201319A>C | NCBI36 |
| NG_029104.2:g.77649T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346872.8:c.468T>G MANE Select | ENSP00000344544.3:p.Thr156= | |
| ENST00000293068.9:c.468T>G | ENSP00000462791.1:p.Thr156= | |
| ENST00000346243.7:c.468T>G | ENSP00000341977.3:p.Thr156= | |
| ENST00000346872.7:c.468T>G | ENSP00000344544.3:p.Thr156= | |
| ENST00000348427.7:c.424+1133T>G | ENSP00000463505.1:n.424+1133T>G | |
| ENST00000350532.7:c.468T>G | ENSP00000344471.3:p.Thr156= | |
| ENST00000351680.7:c.468T>G | ENSP00000345622.3:p.Thr156= | |
| ENST00000377944.7:c.164-3166T>G | ENSP00000367179.3:n.164-3166T>G | |
| ENST00000377945.7:c.424+1133T>G | ENSP00000367180.3:n.424+1133T>G | |
| ENST00000377952.6:c.164-25047T>G | ENSP00000367188.2:n.164-25047T>G | |
| ENST00000377958.6:c.207T>G | ENSP00000367194.2:p.Thr69= | |
| ENST00000394189.6:c.164-13773T>G | ENSP00000377741.2:n.164-13773T>G | |
| ENST00000439016.2:c.424+1133T>G | ENSP00000403027.2:n.424+1133T>G | |
| ENST00000439167.6:c.366T>G | ENSP00000403776.2:p.Thr122= | |
| ENST00000467757.5:c.424+1133T>G | ENSP00000420463.1:n.424+1133T>G | |
| ENST00000535189.5:c.366T>G | ENSP00000438972.1:p.Thr122= | |
| ENST00000623724.3:c.-400T>G | ENSP00000485515.1:n.-400T>G | |
| NM_001257408.1:c.366T>G | NP_001244337.1:p.Thr122= | |
| NM_001257409.1:c.366T>G | NP_001244338.1:p.Thr122= | |
| NM_001257410.1:c.207T>G | NP_001244339.1:p.Thr69= | |
| NM_001257411.1:c.164-3166T>G | NP_001244340.1:n.164-3166T>G | |
| NM_001257412.1:c.164-13773T>G | NP_001244341.1:n.164-13773T>G | |
| NM_001257413.1:c.164-25047T>G | NP_001244342.1:n.164-25047T>G | |
| NM_001257414.1:c.424+1133T>G | NP_001244343.1:n.424+1133T>G | |
| NM_001284514.1:c.-400T>G | NP_001271443.1:n.-400T>G | |
| NM_001284515.1:c.-276+1133T>G | NP_001271444.1:n.-276+1133T>G | |
| NM_012481.4:c.468T>G | NP_036613.2:p.Thr156= | |
| NM_183228.2:c.424+1133T>G | NP_899051.1:n.424+1133T>G | |
| NM_183229.2:c.468T>G | NP_899052.1:p.Thr156= | |
| NM_183230.2:c.468T>G | NP_899053.1:p.Thr156= | |
| NM_183231.2:c.424+1133T>G | NP_899054.1:n.424+1133T>G | |
| NM_183232.2:c.468T>G | NP_899055.1:p.Thr156= | |
| NM_012481.5:c.468T>G MANE Select | NP_036613.2:p.Thr156= | |
| NM_001257408.2:c.366T>G | NP_001244337.1:p.Thr122= | |
| NM_001257409.2:c.366T>G | NP_001244338.1:p.Thr122= | |
| NM_001257410.2:c.207T>G | NP_001244339.1:p.Thr69= | |
| NM_001257411.2:c.164-3166T>G | NP_001244340.1:n.164-3166T>G | |
| NM_001257412.2:c.164-13773T>G | NP_001244341.1:n.164-13773T>G | |
| NM_001257413.2:c.164-25047T>G | NP_001244342.1:n.164-25047T>G | |
| NM_001257414.2:c.424+1133T>G | NP_001244343.1:n.424+1133T>G | |
| NM_001284515.2:c.-276+1133T>G | NP_001271444.1:n.-276+1133T>G | |
| NM_183228.3:c.424+1133T>G | NP_899051.1:n.424+1133T>G | |
| NM_183229.3:c.468T>G | NP_899052.1:p.Thr156= | |
| NM_183230.3:c.468T>G | NP_899053.1:p.Thr156= | |
| NM_183231.3:c.424+1133T>G | NP_899054.1:n.424+1133T>G | |
| NM_183232.3:c.468T>G | NP_899055.1:p.Thr156= | |
| NM_001284514.2:c.-400T>G | NP_001271443.1:n.-400T>G |