Linked Data
dbSNP Id:
rs1370550127
gnomAD v2:
12-7945737-C-G
gnomAD v3:
12-7793141-C-G
gnomAD v4:
12-7793141-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7793141C>G , CM000674.2:g.7793141C>G | GRCh38 |
| NC_000012.11:g.7945737C>G , CM000674.1:g.7945737C>G | GRCh37 |
| NC_000012.10:g.7837004C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229307.9:c.343C>G MANE Select | ENSP00000229307.4:p.Gln115Glu | |
| ENST00000229307.8:c.343C>G | ENSP00000229307.4:p.Gln115Glu | |
| ENST00000526286.1:c.343C>G | ENSP00000435288.1:p.Gln115Glu | |
| ENST00000526434.2:n.487C>G | ||
| ENST00000541267.5:c.271C>G | ENSP00000444434.1:p.Gln91Glu | |
| NM_001297698.1:c.343C>G | NP_001284627.1:p.Gln115Glu | |
| NM_024865.3:c.343C>G | NP_079141.2:p.Gln115Glu | |
| XM_011520850.1:c.343C>G | XP_011519152.1:p.Gln115Glu | |
| XM_011520851.1:c.271C>G | XP_011519153.1:p.Gln91Glu | |
| XM_011520852.1:c.-30C>G | XP_011519154.1:n.-30C>G | |
| NM_024865.4:c.343C>G MANE Select | NP_079141.2:p.Gln115Glu | |
| NM_001297698.2:c.343C>G | NP_001284627.1:p.Gln115Glu |