Linked Data
ClinVar Variation Id:
1195012
ClinVar RCV Id:
RCV001557939
dbSNP Id:
rs2113347929
gnomAD v4:
5-178994664-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994664C>G , CM000667.2:g.178994664C>G | GRCh38 |
| NC_000005.9:g.178421665C>G , CM000667.1:g.178421665C>G | GRCh37 |
| NC_000005.8:g.178354271C>G | NCBI36 |
| NG_008105.1:g.5460G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.281G>C MANE Select | ENSP00000430767.1:p.Arg94Pro | |
| ENST00000650031.1:c.281G>C | ENSP00000497110.1:p.Arg94Pro | |
| ENST00000231188.9:c.281G>C | ENSP00000231188.5:p.Arg94Pro | |
| ENST00000517717.1:c.281G>C | ENSP00000430767.1:p.Arg94Pro | |
| NM_000843.3:c.281G>C | NP_000834.2:p.Arg94Pro | |
| NM_000843.4:c.281G>C MANE Select | NP_000834.2:p.Arg94Pro |