Linked Data
ClinVar Variation Id:
2435785
ClinVar RCV Id:
RCV003136535
dbSNP Id:
rs1454196953
gnomAD v4:
1-17033092-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17033092G>C , CM000663.2:g.17033092G>C | GRCh38 |
| NC_000001.10:g.17359587G>C , CM000663.1:g.17359587G>C | GRCh37 |
| NC_000001.9:g.17232174G>C | NCBI36 |
| NG_012340.1:g.26079C>G , LRG_316:g.26079C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.83C>G | ENSP00000481376.2:p.Ser28Cys | |
| ENST00000491274.6:c.212C>G | ENSP00000480482.2:p.Ser71Cys | |
| ENST00000375499.8:c.254C>G MANE Select | ENSP00000364649.3:p.Ser85Cys | |
| ENST00000375499.7:c.254C>G | ENSP00000364649.3:p.Ser85Cys | |
| ENST00000463045.2:c.83C>G | ENSP00000481376.1:p.Ser28Cys | |
| ENST00000466613.2:n.266C>G | ||
| ENST00000475506.1:n.171C>G | ||
| ENST00000485515.5:n.242C>G | ||
| ENST00000491274.5:c.212C>G | ENSP00000480482.1:p.Ser71Cys | |
| NM_003000.2:c.254C>G , LRG_316t1:c.254C>G | NP_002991.2:p.Ser85Cys | |
| NM_003000.3:c.254C>G MANE Select | NP_002991.2:p.Ser85Cys |