Linked Data
ClinVar Variation Id:
2642
dbSNP Id:
rs119455954
ExAC:
11:6637287 C / T
gnomAD v2:
11-6637287-C-T
gnomAD v3:
11-6616056-C-T
gnomAD v4:
11-6616056-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616056C>T , CM000673.2:g.6616056C>T | GRCh38 |
| NC_000011.9:g.6637287C>T , CM000673.1:g.6637287C>T | GRCh37 |
| NC_000011.8:g.6593863C>T | NCBI36 |
| NG_008653.1:g.8406G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682424.1:c.980G>A | ENSP00000507321.1:p.Cys327Tyr | |
| ENST00000299427.12:c.1094G>A MANE Select | ENSP00000299427.6:p.Cys365Tyr | |
| ENST00000436873.7:c.331G>A | ||
| ENST00000524924.2:n.214G>A | ||
| ENST00000533371.6:c.365G>A | ENSP00000437066.1:p.Cys122Tyr | |
| ENST00000642892.1:c.365G>A | ENSP00000494165.1:p.Cys122Tyr | |
| ENST00000643342.1:c.184G>A | ||
| ENST00000643439.1:c.*834G>A | ENSP00000495849.1:n.*834G>A | |
| ENST00000643479.1:n.1280G>A | ||
| ENST00000643516.1:c.603G>A | ||
| ENST00000644218.1:c.905G>A | ENSP00000493574.1:p.Cys302Tyr | |
| ENST00000644683.1:c.*547G>A | ENSP00000494085.1:n.*547G>A | |
| ENST00000644810.1:c.815G>A | ENSP00000495895.1:p.Cys272Tyr | |
| ENST00000644831.1:n.1270G>A | ||
| ENST00000644933.1:c.365G>A | ENSP00000496133.1:p.Cys122Tyr | |
| ENST00000645285.1:c.176G>A | ENSP00000495058.1:p.Cys59Tyr | |
| ENST00000645331.1:n.1857G>A | ||
| ENST00000645620.1:c.365G>A | ENSP00000493657.1:p.Cys122Tyr | |
| ENST00000646691.1:n.427G>A | ||
| ENST00000646777.1:n.1427G>A | ||
| ENST00000647016.1:n.1574G>A | ||
| ENST00000647152.1:c.365G>A | ENSP00000495893.1:p.Cys122Tyr | |
| ENST00000647209.1:c.*963G>A | ENSP00000495558.1:n.*963G>A | |
| ENST00000647346.1:n.2114G>A | ||
| ENST00000299427.10:c.1094G>A | ENSP00000299427.6:p.Cys365Tyr | |
| ENST00000524924.1:n.49G>A | ||
| ENST00000533371.5:c.365G>A | ENSP00000437066.1:p.Cys122Tyr | |
| ENST00000611494.4:c.1094G>A | ENSP00000484546.1:p.Cys365Tyr | |
| NM_000391.3:c.1094G>A | NP_000382.3:p.Cys365Tyr | |
| NM_000391.4:c.1094G>A MANE Select | NP_000382.3:p.Cys365Tyr |