Linked Data
ClinVar Variation Id:
326
ClinVar RCV Id:
RCV000000354
RCV000041170
RCV000183674
RCV000208290
RCV000234084
RCV000246924
RCV000491470
RCV001170736
RCV003147270
dbSNP Id:
rs137853197
ExAC:
1:78408441 A / G
gnomAD v2:
1-78408441-A-G
gnomAD v3:
1-77942756-A-G
gnomAD v4:
1-77942756-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77942756A>G , CM000663.2:g.77942756A>G | GRCh38 |
| NC_000001.10:g.78408441A>G , CM000663.1:g.78408441A>G | GRCh37 |
| NC_000001.9:g.78181029A>G | NCBI36 |
| NG_016625.1:g.59242A>G , LRG_442:g.59242A>G | |
| NG_033243.2:g.41338T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334785.12:c.1955A>G MANE Select | ENSP00000333938.7:p.Tyr652Cys | |
| ENST00000330010.12:c.1763A>G | ENSP00000327363.8:p.Tyr588Cys | |
| ENST00000334785.11:c.1955A>G | ENSP00000333938.7:p.Tyr652Cys | |
| ENST00000342754.5:c.1654A>G | ||
| ENST00000480732.2:n.1529A>G | ||
| NM_001172309.1:c.1763A>G | NP_001165780.1:p.Tyr588Cys | |
| NM_144573.3:c.1955A>G , LRG_442t1:c.1955A>G | NP_653174.3:p.Tyr652Cys | |
| XM_005271322.2:c.1955A>G | XP_005271379.1:p.Tyr652Cys | |
| XM_005271323.2:c.1913A>G | XP_005271380.1:p.Tyr638Cys | |
| XM_005271324.3:c.1763A>G | XP_005271381.1:p.Tyr588Cys | |
| XM_005271325.2:c.1733A>G | XP_005271382.1:p.Tyr578Cys | |
| XM_005271326.2:c.1721A>G | XP_005271383.1:p.Tyr574Cys | |
| XM_005271327.2:c.1538A>G | XP_005271384.1:p.Tyr513Cys | |
| XM_005271322.4:c.1955A>G | XP_005271379.1:p.Tyr652Cys | |
| XM_005271323.4:c.1913A>G | XP_005271380.1:p.Tyr638Cys | |
| XM_005271324.5:c.1763A>G | XP_005271381.1:p.Tyr588Cys | |
| XM_005271325.4:c.1733A>G | XP_005271382.1:p.Tyr578Cys | |
| XM_005271326.4:c.1721A>G | XP_005271383.1:p.Tyr574Cys | |
| XM_005271327.4:c.1538A>G | XP_005271384.1:p.Tyr513Cys | |
| NM_001172309.2:c.1763A>G | NP_001165780.1:p.Tyr588Cys | |
| NM_144573.4:c.1955A>G MANE Select | NP_653174.3:p.Tyr652Cys |