Linked Data
ClinVar Variation Id:
204848
dbSNP Id:
rs747597620
ExAC:
5:125887729 T / C
gnomAD v2:
5-125887729-T-C
gnomAD v4:
5-126552037-T-C
COSMIC:
COSM69612
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126552037T>C , CM000667.2:g.126552037T>C | GRCh38 |
| NC_000005.9:g.125887729T>C , CM000667.1:g.125887729T>C | GRCh37 |
| NC_000005.8:g.125915628T>C | NCBI36 |
| NG_008600.2:g.48354A>G | |
| NG_008600.3:g.48354A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1301A>G MANE Select | ENSP00000387123.3:p.Tyr434Cys | |
| ENST00000458249.6:c.*1210A>G | ENSP00000403929.1:n.*1210A>G | |
| ENST00000497231.7:n.1728A>G | ||
| ENST00000503281.6:c.890A>G | ||
| ENST00000635851.1:c.1299A>G | ||
| ENST00000636062.1:n.1196A>G | ||
| ENST00000636225.1:c.*1245A>G | ENSP00000490797.1:n.*1245A>G | |
| ENST00000636286.1:n.1019A>G | ||
| ENST00000636482.1:n.788A>G | ||
| ENST00000636743.1:c.1181A>G | ENSP00000489725.1:p.Tyr394Cys | |
| ENST00000636808.1:c.*1110A>G | ENSP00000490833.1:n.*1110A>G | |
| ENST00000636872.1:c.1461A>G | ENSP00000490919.1:n.1461A>G | |
| ENST00000636879.1:c.1346A>G | ENSP00000490811.1:p.Tyr449Cys | |
| ENST00000636886.1:c.1100A>G | ENSP00000490371.1:p.Tyr367Cys | |
| ENST00000637206.1:c.1121A>G | ENSP00000489895.1:p.Tyr374Cys | |
| ENST00000637272.1:c.1292A>G | ENSP00000489686.1:p.Tyr431Cys | |
| ENST00000637292.1:c.774-1744A>G | ||
| ENST00000637782.1:c.1301A>G | ENSP00000490024.1:p.Tyr434Cys | |
| ENST00000638008.1:c.*1145A>G | ENSP00000490400.1:n.*1145A>G | |
| ENST00000638010.1:n.1247A>G | ||
| ENST00000409134.7:c.1301A>G | ENSP00000387123.3:p.Tyr434Cys | |
| ENST00000447989.6:c.1190A>G | ENSP00000414132.2:p.Tyr397Cys | |
| ENST00000476328.1:n.66A>G | ||
| ENST00000497231.6:n.1511A>G | ||
| ENST00000503281.5:c.890A>G | ||
| ENST00000553117.5:c.1109A>G | ENSP00000448593.1:p.Tyr370Cys | |
| NM_001182.4:c.1301A>G | NP_001173.2:p.Tyr434Cys | |
| NM_001201377.1:c.1217A>G | NP_001188306.1:p.Tyr406Cys | |
| NM_001202404.1:c.1190A>G | NP_001189333.1:p.Tyr397Cys | |
| XM_011543417.1:c.896A>G | XP_011541719.1:p.Tyr299Cys | |
| XM_011543417.2:c.896A>G | XP_011541719.1:p.Tyr299Cys | |
| NM_001182.5:c.1301A>G MANE Select | NP_001173.2:p.Tyr434Cys | |
| NM_001201377.2:c.1217A>G | NP_001188306.1:p.Tyr406Cys | |
| NM_001202404.2:c.1109A>G | NP_001189333.2:p.Tyr370Cys |