Linked Data
ClinVar Variation Id:
3071848
ClinVar RCV Id:
RCV004016342
dbSNP Id:
rs368861241
gnomAD v4:
19-55154095-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154095G>C , CM000681.2:g.55154095G>C | GRCh38 |
| NC_000019.9:g.55665463G>C , CM000681.1:g.55665463G>C | GRCh37 |
| NC_000019.8:g.60357275G>C | NCBI36 |
| NG_007866.2:g.8638C>G , LRG_432:g.8638C>G | |
| NG_011829.2:g.144C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.484C>G MANE Select | ENSP00000341838.5:p.Arg162Gly | |
| ENST00000665070.1:c.517C>G | ENSP00000499482.1:p.Arg173Gly | |
| ENST00000344887.9:c.484C>G | ENSP00000341838.5:p.Arg162Gly | |
| ENST00000585806.5:n.483C>G | ||
| ENST00000588882.1:c.409C>G | ENSP00000466729.1:p.Arg137Gly | |
| ENST00000589864.1:n.312C>G | ||
| NM_000363.4:c.484C>G , LRG_432t1:c.484C>G | NP_000354.4:p.Arg162Gly | |
| NM_000363.5:c.484C>G MANE Select | NP_000354.4:p.Arg162Gly |