Linked Data
dbSNP Id:
rs977911360
gnomAD v2:
5-33984503-G-C
gnomAD v3:
5-33984398-G-C
gnomAD v4:
5-33984398-G-C
COSMIC:
COSM4812933
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33984398G>C , CM000667.2:g.33984398G>C | GRCh38 |
| NC_000005.9:g.33984503G>C , CM000667.1:g.33984503G>C | GRCh37 |
| NC_000005.8:g.34020260G>C | NCBI36 |
| NG_011691.2:g.5278C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.186C>G MANE Select | ENSP00000296589.4:p.Ser62Arg | |
| ENST00000296589.8:c.186C>G | ENSP00000296589.4:p.Ser62Arg | |
| ENST00000382102.7:c.186C>G | ENSP00000371534.3:p.Ser62Arg | |
| ENST00000505056.1:n.165C>G | ||
| ENST00000509381.1:c.186C>G | ENSP00000421100.1:p.Ser62Arg | |
| NM_001012509.3:c.186C>G | NP_001012527.1:p.Ser62Arg | |
| NM_001297417.2:c.186C>G | NP_001284346.2:p.Ser62Arg | |
| NM_016180.4:c.186C>G | NP_057264.3:p.Ser62Arg | |
| XM_011514052.1:c.186C>G | XP_011512354.1:p.Ser62Arg | |
| XR_925620.1:n.747C>G | ||
| NM_016180.5:c.186C>G MANE Select | NP_057264.4:p.Ser62Arg | |
| NM_001012509.4:c.186C>G | NP_001012527.2:p.Ser62Arg | |
| NM_001297417.3:c.186C>G | NP_001284346.2:p.Ser62Arg | |
| NM_001297417.4:c.186C>G | NP_001284346.2:p.Ser62Arg |