Linked Data
ClinVar Variation Id:
1331910
ClinVar RCV Id:
RCV001804426
dbSNP Id:
rs730881068
ExAC:
19:55666189 G / C
gnomAD v4:
19-55154821-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154821G>C , CM000681.2:g.55154821G>C | GRCh38 |
| NC_000019.9:g.55666189G>C , CM000681.1:g.55666189G>C | GRCh37 |
| NC_000019.8:g.60358001G>C | NCBI36 |
| NG_007866.2:g.7912C>G , LRG_432:g.7912C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.292C>G MANE Select | ENSP00000341838.5:p.Arg98Gly | |
| ENST00000665070.1:c.292C>G | ENSP00000499482.1:p.Arg98Gly | |
| ENST00000344887.9:c.292C>G | ENSP00000341838.5:p.Arg98Gly | |
| ENST00000585806.5:n.291C>G | ||
| ENST00000586669.5:n.300C>G | ||
| ENST00000587176.5:n.476C>G | ||
| ENST00000587871.1:c.911C>G | ||
| ENST00000588882.1:c.217C>G | ENSP00000466729.1:p.Arg73Gly | |
| ENST00000590463.1:n.464C>G | ||
| NM_000363.4:c.292C>G , LRG_432t1:c.292C>G | NP_000354.4:p.Arg98Gly | |
| NM_000363.5:c.292C>G MANE Select | NP_000354.4:p.Arg98Gly |