Linked Data
ClinVar Variation Id:
835946
ClinVar RCV Id:
RCV001036951
dbSNP Id:
rs1356486929
gnomAD v2:
2-32289052-A-G
gnomAD v4:
2-32063983-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32063983A>G , CM000664.2:g.32063983A>G | GRCh38 |
| NC_000002.11:g.32289052A>G , CM000664.1:g.32289052A>G | GRCh37 |
| NC_000002.10:g.32142556A>G | NCBI36 |
| NG_008730.1:g.5373A>G , LRG_714:g.5373A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.152A>G | ENSP00000515816.1:p.Tyr51Cys | |
| ENST00000315285.9:c.152A>G MANE Select | ENSP00000320885.3:p.Tyr51Cys | |
| ENST00000621856.2:c.152A>G | ENSP00000482496.2:p.Tyr51Cys | |
| ENST00000642281.1:c.36A>G | ||
| ENST00000642455.1:c.152A>G | ENSP00000493827.1:p.Tyr51Cys | |
| ENST00000642751.1:c.22A>G | ||
| ENST00000642999.1:c.-107A>G | ENSP00000496589.1:n.-107A>G | |
| ENST00000644408.1:c.28A>G | ||
| ENST00000644954.1:c.-107A>G | ENSP00000494312.1:n.-107A>G | |
| ENST00000646571.1:c.152A>G | ENSP00000495015.1:p.Tyr51Cys | |
| ENST00000315285.7:c.152A>G | ENSP00000320885.3:p.Tyr51Cys | |
| ENST00000345662.5:c.152A>G | ENSP00000340817.1:p.Tyr51Cys | |
| ENST00000615843.4:c.152A>G | ENSP00000480893.1:p.Tyr51Cys | |
| ENST00000621856.1:c.-107A>G | ENSP00000482496.1:n.-107A>G | |
| NM_014946.3:c.152A>G , LRG_714t1:c.152A>G | NP_055761.2:p.Tyr51Cys | |
| NM_199436.1:c.152A>G | NP_955468.1:p.Tyr51Cys | |
| XM_005264516.3:c.152A>G | XP_005264573.1:p.Tyr51Cys | |
| XM_011533067.1:c.152A>G | XP_011531369.1:p.Tyr51Cys | |
| NM_001363823.1:c.152A>G | NP_001350752.1:p.Tyr51Cys | |
| NM_001363875.1:c.152A>G | NP_001350804.1:p.Tyr51Cys | |
| XM_005264516.5:c.152A>G | XP_005264573.1:p.Tyr51Cys | |
| XM_011533067.2:c.152A>G | XP_011531369.1:p.Tyr51Cys | |
| XM_017004778.2:c.152A>G | XP_016860267.1:p.Tyr51Cys | |
| NM_001363823.2:c.152A>G | NP_001350752.1:p.Tyr51Cys | |
| NM_001363875.2:c.152A>G | NP_001350804.1:p.Tyr51Cys | |
| NM_001377959.1:c.152A>G | NP_001364888.1:p.Tyr51Cys | |
| NM_014946.4:c.152A>G MANE Select | NP_055761.2:p.Tyr51Cys | |
| NM_199436.2:c.152A>G | NP_955468.1:p.Tyr51Cys |