Linked Data
ClinVar Variation Id:
201936
ClinVar RCV Id:
RCV000183675
dbSNP Id:
rs794729087
gnomAD v3:
1-77942801-G-A
gnomAD v4:
1-77942801-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77942801G>A , CM000663.2:g.77942801G>A | GRCh38 |
| NC_000001.10:g.78408486G>A , CM000663.1:g.78408486G>A | GRCh37 |
| NC_000001.9:g.78181074G>A | NCBI36 |
| NG_016625.1:g.59287G>A , LRG_442:g.59287G>A | |
| NG_033243.2:g.41293C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.2000G>A MANE Select | ENSP00000333938.7:p.Cys667Tyr | |
| ENST00000330010.12:c.1808G>A | ENSP00000327363.8:p.Cys603Tyr | |
| ENST00000334785.11:c.2000G>A | ENSP00000333938.7:p.Cys667Tyr | |
| ENST00000342754.5:c.1699G>A | ||
| ENST00000480732.2:n.1574G>A | ||
| NM_001172309.1:c.1808G>A | NP_001165780.1:p.Cys603Tyr | |
| NM_144573.3:c.2000G>A , LRG_442t1:c.2000G>A | NP_653174.3:p.Cys667Tyr | |
| XM_005271322.2:c.2000G>A | XP_005271379.1:p.Cys667Tyr | |
| XM_005271323.2:c.1958G>A | XP_005271380.1:p.Cys653Tyr | |
| XM_005271324.3:c.1808G>A | XP_005271381.1:p.Cys603Tyr | |
| XM_005271325.2:c.1778G>A | XP_005271382.1:p.Cys593Tyr | |
| XM_005271326.2:c.1766G>A | XP_005271383.1:p.Cys589Tyr | |
| XM_005271327.2:c.1583G>A | XP_005271384.1:p.Cys528Tyr | |
| XM_005271322.4:c.2000G>A | XP_005271379.1:p.Cys667Tyr | |
| XM_005271323.4:c.1958G>A | XP_005271380.1:p.Cys653Tyr | |
| XM_005271324.5:c.1808G>A | XP_005271381.1:p.Cys603Tyr | |
| XM_005271325.4:c.1778G>A | XP_005271382.1:p.Cys593Tyr | |
| XM_005271326.4:c.1766G>A | XP_005271383.1:p.Cys589Tyr | |
| XM_005271327.4:c.1583G>A | XP_005271384.1:p.Cys528Tyr | |
| NM_001172309.2:c.1808G>A | NP_001165780.1:p.Cys603Tyr | |
| NM_144573.4:c.2000G>A MANE Select | NP_653174.3:p.Cys667Tyr |