Linked Data
ClinVar Variation Id:
652321
dbSNP Id:
rs1476163101
gnomAD v2:
1-193172956-C-G
gnomAD v3:
1-193203826-C-G
gnomAD v4:
1-193203826-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193203826C>G , CM000663.2:g.193203826C>G | GRCh38 |
| NC_000001.10:g.193172956C>G , CM000663.1:g.193172956C>G | GRCh37 |
| NC_000001.9:g.191439579C>G | NCBI36 |
| NG_012691.1:g.86869C>G , LRG_507:g.86869C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1004C>G MANE Select | ENSP00000356405.4:p.Pro335Arg | |
| ENST00000635846.1:c.761C>G | ENSP00000490035.1:p.Pro254Arg | |
| ENST00000643006.1:c.1072C>G | ENSP00000496633.1:p.Leu358Val | |
| ENST00000648071.1:c.*980C>G | ENSP00000497513.1:n.*980C>G | |
| ENST00000649613.1:n.254C>G | ||
| ENST00000649895.1:n.1222C>G | ||
| ENST00000650197.1:c.1004C>G | ENSP00000496929.1:p.Pro335Arg | |
| ENST00000367435.3:c.1004C>G | ENSP00000356405.3:p.Pro335Arg | |
| NM_024529.4:c.1004C>G , LRG_507t1:c.1004C>G | NP_078805.3:p.Pro335Arg | |
| NM_024529.5:c.1004C>G MANE Select | NP_078805.3:p.Pro335Arg |