Linked Data
ClinVar Variation Id:
419507
dbSNP Id:
rs200245469
ExAC:
1:17349219 G / C
gnomAD v2:
1-17349219-G-C
gnomAD v4:
1-17022724-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022724G>C , CM000663.2:g.17022724G>C | GRCh38 |
| NC_000001.10:g.17349219G>C , CM000663.1:g.17349219G>C | GRCh37 |
| NC_000001.9:g.17221806G>C | NCBI36 |
| NG_012340.1:g.36447C>G , LRG_316:g.36447C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.478C>G | ENSP00000481376.2:p.Arg160Gly | |
| ENST00000491274.6:c.607C>G | ENSP00000480482.2:p.Arg203Gly | |
| ENST00000375499.8:c.649C>G MANE Select | ENSP00000364649.3:p.Arg217Gly | |
| ENST00000375499.7:c.649C>G | ENSP00000364649.3:p.Arg217Gly | |
| ENST00000475049.5:n.74C>G | ||
| ENST00000485092.5:n.313C>G | ||
| ENST00000485515.5:n.583C>G | ||
| NM_003000.2:c.649C>G , LRG_316t1:c.649C>G | NP_002991.2:p.Arg217Gly | |
| NM_003000.3:c.649C>G MANE Select | NP_002991.2:p.Arg217Gly |