Linked Data
ClinVar Variation Id:
35676
dbSNP Id:
rs193922693
gnomAD v3:
2-73448392-A-G
gnomAD v4:
2-73448392-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73448392A>G , CM000664.2:g.73448392A>G | GRCh38 |
| NC_000002.11:g.73675519A>G , CM000664.1:g.73675519A>G | GRCh37 |
| NC_000002.10:g.73529027A>G | NCBI36 |
| NG_011690.1:g.67640A>G , LRG_741:g.67640A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.1484A>G | ENSP00000507671.1:p.Tyr495Cys | |
| ENST00000682801.1:c.1484A>G | ENSP00000507862.1:p.Tyr495Cys | |
| ENST00000682859.1:c.1484A>G | ENSP00000508222.1:p.Tyr495Cys | |
| ENST00000683791.1:c.685+16101A>G | ||
| ENST00000684548.1:c.1484A>G | ENSP00000507421.1:p.Tyr495Cys | |
| ENST00000613296.6:c.1865A>G MANE Select | ENSP00000482968.1:p.Tyr622Cys | |
| ENST00000484298.5:c.1739A>G | ENSP00000478155.1:p.Tyr580Cys | |
| ENST00000613296.4:c.1865A>G | ENSP00000482968.1:p.Tyr622Cys | |
| ENST00000614410.4:c.1865A>G | ENSP00000479094.1:p.Tyr622Cys | |
| NM_015120.4:c.1868A>G , LRG_741t1:c.1868A>G | NP_055935.4:p.Tyr623Cys | |
| NM_001378454.1:c.1865A>G MANE Select | NP_001365383.1:p.Tyr622Cys |