Linked Data
ClinVar Variation Id:
2804728
ClinVar RCV Id:
RCV003684247
dbSNP Id:
rs1568847496
gnomAD v4:
20-46011684-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011684C>G , CM000682.2:g.46011684C>G | GRCh38 |
| NC_000020.10:g.44640323C>G , CM000682.1:g.44640323C>G | GRCh37 |
| NC_000020.9:g.44073730C>G | NCBI36 |
| NG_011468.1:g.7777C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.934C>G MANE Select | ENSP00000361405.3:p.Arg312Gly | |
| NM_004994.2:c.934C>G | NP_004985.2:p.Arg312Gly | |
| NM_004994.3:c.934C>G MANE Select | NP_004985.2:p.Arg312Gly |