Linked Data
ClinVar Variation Id:
216424
ClinVar RCV Id:
RCV000198680
dbSNP Id:
rs397516344
gnomAD v4:
19-55154806-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154806G>C , CM000681.2:g.55154806G>C | GRCh38 |
| NC_000019.9:g.55666174G>C , CM000681.1:g.55666174G>C | GRCh37 |
| NC_000019.8:g.60357986G>C | NCBI36 |
| NG_007866.2:g.7927C>G , LRG_432:g.7927C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.307C>G MANE Select | ENSP00000341838.5:p.Arg103Gly | |
| ENST00000665070.1:c.307C>G | ENSP00000499482.1:p.Arg103Gly | |
| ENST00000344887.9:c.307C>G | ENSP00000341838.5:p.Arg103Gly | |
| ENST00000585806.5:n.306C>G | ||
| ENST00000586669.5:n.315C>G | ||
| ENST00000587176.5:n.491C>G | ||
| ENST00000587871.1:c.926C>G | ||
| ENST00000588882.1:c.232C>G | ENSP00000466729.1:p.Arg78Gly | |
| ENST00000590463.1:n.479C>G | ||
| NM_000363.4:c.307C>G , LRG_432t1:c.307C>G | NP_000354.4:p.Arg103Gly | |
| NM_000363.5:c.307C>G MANE Select | NP_000354.4:p.Arg103Gly |