Linked Data
ClinVar Variation Id:
2697202
ClinVar RCV Id:
RCV003596298
dbSNP Id:
rs1338131195
gnomAD v2:
5-151202377-C-G
gnomAD v3:
5-151822816-C-G
gnomAD v4:
5-151822816-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151822816C>G , CM000667.2:g.151822816C>G | GRCh38 |
| NC_000005.9:g.151202377C>G , CM000667.1:g.151202377C>G | GRCh37 |
| NC_000005.8:g.151182570C>G | NCBI36 |
| NG_011764.1:g.107021G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274576.9:c.1207G>C MANE Select | ENSP00000274576.5:p.Glu403Gln | |
| ENST00000274576.8:c.1207G>C | ENSP00000274576.4:p.Glu403Gln | |
| ENST00000455880.2:c.1231G>C | ENSP00000411593.2:p.Glu411Gln | |
| ENST00000462581.6:c.*965G>C | ENSP00000430595.1:n.*965G>C | |
| NM_000171.3:c.1207G>C | NP_000162.2:p.Glu403Gln | |
| NM_001146040.1:c.1231G>C | NP_001139512.1:p.Glu411Gln | |
| NM_001292000.1:c.958G>C | NP_001278929.1:p.Glu320Gln | |
| NM_000171.4:c.1207G>C MANE Select | NP_000162.2:p.Glu403Gln | |
| NM_001146040.2:c.1231G>C | NP_001139512.1:p.Glu411Gln | |
| NM_001292000.2:c.958G>C | NP_001278929.1:p.Glu320Gln |