Linked Data
ClinVar Variation Id:
486036
dbSNP Id:
rs775931264
ExAC:
4:41748261 C / G
gnomAD v2:
4-41748261-C-G
gnomAD v4:
4-41746244-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746244C>G , CM000666.2:g.41746244C>G | GRCh38 |
| NC_000004.11:g.41748261C>G , CM000666.1:g.41748261C>G | GRCh37 |
| NC_000004.10:g.41443018C>G | NCBI36 |
| NG_008243.1:g.7727G>C , LRG_513:g.7727G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.508G>C MANE Select | ENSP00000226382.2:p.Gly170Arg | |
| ENST00000226382.3:c.508G>C | ENSP00000226382.2:p.Gly170Arg | |
| ENST00000510424.2:n.329G>C | ||
| NM_003924.3:c.508G>C , LRG_513t1:c.508G>C | NP_003915.2:p.Gly170Arg | |
| NM_003924.4:c.508G>C MANE Select | NP_003915.2:p.Gly170Arg |