Linked Data
ClinVar Variation Id:
466609
ClinVar RCV Id:
RCV000528604
dbSNP Id:
rs573919387
gnomAD v2:
4-52890140-A-G
gnomAD v3:
4-52023974-A-G
gnomAD v4:
4-52023974-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52023974A>G , CM000666.2:g.52023974A>G | GRCh38 |
| NC_000004.11:g.52890140A>G , CM000666.1:g.52890140A>G | GRCh37 |
| NC_000004.10:g.52584897A>G | NCBI36 |
| NG_008891.1:g.19346T>C , LRG_204:g.19346T>C | |
| NG_053164.1:g.1338T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.940T>C MANE Select | ENSP00000370839.6:p.Cys314Arg | |
| ENST00000381431.9:c.940T>C | ENSP00000370839.5:p.Cys314Arg | |
| NM_000232.4:c.940T>C , LRG_204t1:c.940T>C | NP_000223.1:p.Cys314Arg | |
| XM_006714049.2:c.643T>C | XP_006714112.1:p.Cys215Arg | |
| XM_011534403.1:c.730T>C | XP_011532705.1:p.Cys244Arg | |
| XM_011534404.1:c.643T>C | XP_011532706.1:p.Cys215Arg | |
| NM_000232.5:c.940T>C MANE Select | NP_000223.1:p.Cys314Arg |