Linked Data
ClinVar Variation Id:
1499013
ClinVar RCV Id:
RCV001999440
dbSNP Id:
rs1422977600
gnomAD v3:
5-61332399-C-G
gnomAD v4:
5-61332399-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61332399C>G , CM000667.2:g.61332399C>G | GRCh38 |
| NC_000005.9:g.60628226C>G , CM000667.1:g.60628226C>G | GRCh37 |
| NC_000005.8:g.60663983C>G | NCBI36 |
| NG_053150.1:g.5127C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252744.6:c.127C>G MANE Select | ENSP00000252744.5:p.Arg43Gly | |
| ENST00000252744.5:c.127C>G | ENSP00000252744.5:p.Arg43Gly | |
| NM_020928.1:c.127C>G | NP_065979.1:p.Arg43Gly | |
| NM_020928.2:c.127C>G MANE Select | NP_065979.1:p.Arg43Gly |