Linked Data
ClinVar Variation Id:
485577
dbSNP Id:
rs773801940
gnomAD v3:
1-241497889-T-C
gnomAD v4:
1-241497889-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241497889T>C , CM000663.2:g.241497889T>C | GRCh38 |
| NC_000001.10:g.241661189T>C , CM000663.1:g.241661189T>C | GRCh37 |
| NC_000001.9:g.239727812T>C | NCBI36 |
| NG_012338.1:g.26866A>G , LRG_504:g.26866A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1975A>G | ||
| ENST00000682162.1:c.1501A>G | ENSP00000508203.1:n.1501A>G | |
| ENST00000682567.1:n.4872A>G | ||
| ENST00000684161.1:n.2687A>G | ||
| ENST00000684483.1:c.*868A>G | ENSP00000507894.1:n.*868A>G | |
| ENST00000366560.4:c.1472A>G MANE Select | ENSP00000355518.4:p.Tyr491Cys | |
| ENST00000366560.3:c.1472A>G | ENSP00000355518.3:p.Tyr491Cys | |
| NM_000143.3:c.1472A>G , LRG_504t1:c.1472A>G | NP_000134.2:p.Tyr491Cys | |
| XM_011544132.1:c.1244A>G | XP_011542434.1:p.Tyr415Cys | |
| XM_011544132.2:c.1244A>G | XP_011542434.1:p.Tyr415Cys | |
| NM_000143.4:c.1472A>G MANE Select | NP_000134.2:p.Tyr491Cys |