Linked Data
ClinVar Variation Id:
1332013
ClinVar RCV Id:
RCV001804529
dbSNP Id:
rs1987518387
gnomAD v3:
18-31089482-T-C
gnomAD v4:
18-31089482-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31089482T>C , CM000680.2:g.31089482T>C | GRCh38 |
| NC_000018.9:g.28669445T>C , CM000680.1:g.28669445T>C | GRCh37 |
| NC_000018.8:g.26923443T>C | NCBI36 |
| NG_008208.2:g.17944A>G , LRG_400:g.17944A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.158A>G | ENSP00000507826.1:p.Tyr53Cys | |
| ENST00000251081.8:c.587A>G | ENSP00000251081.6:p.Tyr196Cys | |
| ENST00000280904.11:c.587A>G MANE Select | ENSP00000280904.6:p.Tyr196Cys | |
| ENST00000648081.1:c.158A>G | ENSP00000497441.1:p.Tyr53Cys | |
| ENST00000251081.6:c.587A>G | ENSP00000251081.6:p.Tyr196Cys | |
| ENST00000280904.10:c.587A>G | ENSP00000280904.6:p.Tyr196Cys | |
| NM_004949.4:c.587A>G | NP_004940.1:p.Tyr196Cys | |
| NM_024422.4:c.587A>G | NP_077740.1:p.Tyr196Cys | |
| XM_005258206.3:c.158A>G | XP_005258263.1:p.Tyr53Cys | |
| XM_005258206.4:c.158A>G | XP_005258263.1:p.Tyr53Cys | |
| NM_004949.5:c.587A>G | NP_004940.1:p.Tyr196Cys | |
| NM_024422.6:c.587A>G MANE Select | NP_077740.1:p.Tyr196Cys |