Linked Data
ClinVar Variation Id:
2810086
ClinVar RCV Id:
RCV003634625
dbSNP Id:
rs778114366
ExAC:
4:41747968 C / G
gnomAD v2:
4-41747968-C-G
gnomAD v4:
4-41745951-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745951C>G , CM000666.2:g.41745951C>G | GRCh38 |
| NC_000004.11:g.41747968C>G , CM000666.1:g.41747968C>G | GRCh37 |
| NC_000004.10:g.41442725C>G | NCBI36 |
| NG_008243.1:g.8020G>C , LRG_513:g.8020G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.801G>C MANE Select | ENSP00000226382.2:p.Gly267= | |
| ENST00000226382.3:c.801G>C | ENSP00000226382.2:p.Gly267= | |
| NM_003924.3:c.801G>C , LRG_513t1:c.801G>C | NP_003915.2:p.Gly267= | |
| NM_003924.4:c.801G>C MANE Select | NP_003915.2:p.Gly267= |