Linked Data
ClinVar Variation Id:
2264451
ClinVar RCV Id:
RCV004122454
dbSNP Id:
rs201783178
ExAC:
7:94953736 T / C
gnomAD v2:
7-94953736-T-C
gnomAD v3:
7-95324424-T-C
gnomAD v4:
7-95324424-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324424T>C , CM000669.2:g.95324424T>C | GRCh38 |
| NC_000007.13:g.94953736T>C , CM000669.1:g.94953736T>C | GRCh37 |
| NC_000007.12:g.94791672T>C | NCBI36 |
| NG_008779.1:g.5149A>G | |
| NG_008779.2:g.5283A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.52A>G MANE Select | ENSP00000222381.3:p.Arg18Gly | |
| ENST00000222381.7:c.52A>G | ENSP00000222381.3:p.Arg18Gly | |
| ENST00000433729.1:c.52A>G | ENSP00000407359.1:p.Arg18Gly | |
| NM_000446.5:c.52A>G | NP_000437.3:p.Arg18Gly | |
| NM_000446.6:c.52A>G | NP_000437.3:p.Arg18Gly | |
| NM_000446.7:c.52A>G MANE Select | NP_000437.3:p.Arg18Gly |