Linked Data
ClinVar Variation Id:
1496395
ClinVar RCV Id:
RCV001991853
dbSNP Id:
rs772652116
ExAC:
5:33984559 C / G
gnomAD v2:
5-33984559-C-G
gnomAD v4:
5-33984454-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33984454C>G , CM000667.2:g.33984454C>G | GRCh38 |
| NC_000005.9:g.33984559C>G , CM000667.1:g.33984559C>G | GRCh37 |
| NC_000005.8:g.34020316C>G | NCBI36 |
| NG_011691.2:g.5222G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.130G>C MANE Select | ENSP00000296589.4:p.Gly44Arg | |
| ENST00000296589.8:c.130G>C | ENSP00000296589.4:p.Gly44Arg | |
| ENST00000382102.7:c.130G>C | ENSP00000371534.3:p.Gly44Arg | |
| ENST00000505056.1:n.109G>C | ||
| ENST00000509381.1:c.130G>C | ENSP00000421100.1:p.Gly44Arg | |
| NM_001012509.3:c.130G>C | NP_001012527.1:p.Gly44Arg | |
| NM_001297417.2:c.130G>C | NP_001284346.2:p.Gly44Arg | |
| NM_016180.4:c.130G>C | NP_057264.3:p.Gly44Arg | |
| XM_011514052.1:c.130G>C | XP_011512354.1:p.Gly44Arg | |
| XR_925620.1:n.691G>C | ||
| NM_016180.5:c.130G>C MANE Select | NP_057264.4:p.Gly44Arg | |
| NM_001012509.4:c.130G>C | NP_001012527.2:p.Gly44Arg | |
| NM_001297417.3:c.130G>C | NP_001284346.2:p.Gly44Arg | |
| NM_001297417.4:c.130G>C | NP_001284346.2:p.Gly44Arg |