Linked Data
ClinVar Variation Id:
206708
dbSNP Id:
rs138955932
ExAC:
4:77116941 T / C
gnomAD v2:
4-77116941-T-C
gnomAD v3:
4-76195788-T-C
gnomAD v4:
4-76195788-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76195788T>C , CM000666.2:g.76195788T>C | GRCh38 |
| NC_000004.11:g.77116941T>C , CM000666.1:g.77116941T>C | GRCh37 |
| NC_000004.10:g.77335965T>C | NCBI36 |
| NG_012054.1:g.23095A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682785.1:n.170A>G | ||
| ENST00000264896.8:c.194A>G MANE Select | ENSP00000264896.2:p.Tyr65Cys | |
| ENST00000502908.2:n.447A>G | ||
| ENST00000509994.2:c.194A>G | ENSP00000420988.1:p.Tyr65Cys | |
| ENST00000638295.1:c.-281A>G | ENSP00000492288.1:n.-281A>G | |
| ENST00000638372.1:n.446A>G | ||
| ENST00000638567.1:n.477A>G | ||
| ENST00000638603.1:c.194A>G | ENSP00000491728.1:p.Tyr65Cys | |
| ENST00000638663.1:c.194A>G | ENSP00000491407.1:p.Tyr65Cys | |
| ENST00000638680.1:n.527A>G | ||
| ENST00000639145.1:c.194A>G | ENSP00000492831.1:p.Tyr65Cys | |
| ENST00000639300.1:c.194A>G | ENSP00000492840.1:p.Tyr65Cys | |
| ENST00000639324.1:n.293A>G | ||
| ENST00000639715.1:c.159A>G | ||
| ENST00000639738.1:c.194A>G | ENSP00000491792.1:p.Tyr65Cys | |
| ENST00000640341.1:c.194A>G | ENSP00000492714.1:p.Tyr65Cys | |
| ENST00000640634.1:c.171A>G | ||
| ENST00000640640.1:c.194A>G | ENSP00000492246.1:p.Tyr65Cys | |
| ENST00000640916.1:n.122A>G | ||
| ENST00000640957.1:c.194A>G | ENSP00000492004.1:p.Tyr65Cys | |
| ENST00000264896.6:c.194A>G | ENSP00000264896.2:p.Tyr65Cys | |
| ENST00000452464.6:c.194A>G | ENSP00000399154.2:p.Tyr65Cys | |
| ENST00000502908.1:n.58A>G | ||
| ENST00000509994.1:c.194A>G | ENSP00000420988.1:p.Tyr65Cys | |
| NM_001204255.1:c.194A>G | NP_001191184.1:p.Tyr65Cys | |
| NM_005506.3:c.194A>G | NP_005497.1:p.Tyr65Cys | |
| NM_005506.4:c.194A>G MANE Select | NP_005497.1:p.Tyr65Cys | |
| NM_001204255.2:c.194A>G | NP_001191184.1:p.Tyr65Cys |