Linked Data
ClinVar Variation Id:
528744
dbSNP Id:
rs772158627
ExAC:
1:17355135 T / C
gnomAD v2:
1-17355135-T-C
gnomAD v3:
1-17028640-T-C
gnomAD v4:
1-17028640-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028640T>C , CM000663.2:g.17028640T>C | GRCh38 |
| NC_000001.10:g.17355135T>C , CM000663.1:g.17355135T>C | GRCh37 |
| NC_000001.9:g.17227722T>C | NCBI36 |
| NG_012340.1:g.30531A>G , LRG_316:g.30531A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.212A>G | ENSP00000481376.2:p.Tyr71Cys | |
| ENST00000491274.6:c.341A>G | ENSP00000480482.2:p.Tyr114Cys | |
| ENST00000375499.8:c.383A>G MANE Select | ENSP00000364649.3:p.Tyr128Cys | |
| ENST00000375499.7:c.383A>G | ENSP00000364649.3:p.Tyr128Cys | |
| ENST00000463045.2:c.212A>G | ENSP00000481376.1:p.Tyr71Cys | |
| ENST00000475506.1:n.300A>G | ||
| ENST00000485515.5:n.357+14A>G | ||
| ENST00000491274.5:c.341A>G | ENSP00000480482.1:p.Tyr114Cys | |
| NM_003000.2:c.383A>G , LRG_316t1:c.383A>G | NP_002991.2:p.Tyr128Cys | |
| NM_003000.3:c.383A>G MANE Select | NP_002991.2:p.Tyr128Cys |