Linked Data
ClinVar Variation Id:
534948
dbSNP Id:
rs1365923535
gnomAD v3:
4-52028800-T-C
gnomAD v4:
4-52028800-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028800T>C , CM000666.2:g.52028800T>C | GRCh38 |
| NC_000004.11:g.52894966T>C , CM000666.1:g.52894966T>C | GRCh37 |
| NC_000004.10:g.52589723T>C | NCBI36 |
| NG_008891.1:g.14520A>G , LRG_204:g.14520A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.551A>G MANE Select | ENSP00000370839.6:p.Tyr184Cys | |
| ENST00000381431.9:c.551A>G | ENSP00000370839.5:p.Tyr184Cys | |
| ENST00000506357.5:c.634A>G | ||
| NM_000232.4:c.551A>G , LRG_204t1:c.551A>G | NP_000223.1:p.Tyr184Cys | |
| XM_006714049.2:c.254A>G | XP_006714112.1:p.Tyr85Cys | |
| XM_011534403.1:c.341A>G | XP_011532705.1:p.Tyr114Cys | |
| XM_011534404.1:c.254A>G | XP_011532706.1:p.Tyr85Cys | |
| NM_000232.5:c.551A>G MANE Select | NP_000223.1:p.Tyr184Cys |