Linked Data
ClinVar Variation Id:
2713774
ClinVar RCV Id:
RCV003550565
dbSNP Id:
rs1307175724
gnomAD v3:
5-150070459-G-C
gnomAD v4:
5-150070459-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150070459G>C , CM000667.2:g.150070459G>C | GRCh38 |
| NC_000005.9:g.149450022G>C , CM000667.1:g.149450022G>C | GRCh37 |
| NC_000005.8:g.149430215G>C | NCBI36 |
| NG_012303.1:g.47914C>G | |
| NG_012303.2:g.47914C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675795.1:c.1195C>G MANE Select | ENSP00000501699.1:p.Arg399Gly | |
| ENST00000286301.7:c.1195C>G | ENSP00000286301.3:p.Arg399Gly | |
| ENST00000504875.5:c.1195C>G | ENSP00000422212.1:p.Arg399Gly | |
| NM_001288705.1:c.1195C>G | NP_001275634.1:p.Arg399Gly | |
| NM_005211.3:c.1195C>G | NP_005202.2:p.Arg399Gly | |
| NR_109969.1:n.1408C>G | ||
| NM_001288705.2:c.1195C>G | NP_001275634.1:p.Arg399Gly | |
| NM_001349736.1:c.1195C>G | NP_001336665.1:p.Arg399Gly | |
| NM_001288705.3:c.1195C>G MANE Select | NP_001275634.1:p.Arg399Gly | |
| NM_001375320.1:c.1195C>G | NP_001362249.1:p.Arg399Gly | |
| NM_001375321.1:c.751C>G | NP_001362250.1:p.Arg251Gly | |
| NR_164679.1:n.1251C>G | ||
| NM_001349736.2:c.1195C>G | NP_001336665.1:p.Arg399Gly | |
| NM_005211.4:c.1195C>G | NP_005202.2:p.Arg399Gly | |
| NR_109969.2:n.1322C>G |