Linked Data
dbSNP Id:
rs1461537843
gnomAD v2:
16-3293350-C-G
gnomAD v3:
16-3243350-C-G
gnomAD v4:
16-3243350-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243350C>G , CM000678.2:g.3243350C>G | GRCh38 |
| NC_000016.9:g.3293350C>G , CM000678.1:g.3293350C>G | GRCh37 |
| NC_000016.8:g.3233351C>G | NCBI36 |
| NG_007871.1:g.18278G>C , LRG_190:g.18278G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1258G>C | ||
| ENST00000219596.6:c.2137G>C MANE Select | ENSP00000219596.1:p.Glu713Gln | |
| ENST00000219596.5:c.2137G>C | ENSP00000219596.1:p.Glu713Gln | |
| ENST00000339854.8:c.1597G>C | ENSP00000339639.4:p.Glu533Gln | |
| ENST00000536379.5:c.1504G>C | ENSP00000445079.1:p.Glu502Gln | |
| ENST00000536980.5:c.*413G>C | ENSP00000444178.1:n.*413G>C | |
| ENST00000537682.5:c.*413G>C | ENSP00000438611.1:n.*413G>C | |
| ENST00000538326.5:c.*762G>C | ENSP00000437486.1:n.*762G>C | |
| ENST00000539145.5:c.1058G>C | ENSP00000444471.1:n.1058G>C | |
| ENST00000541159.5:c.1679G>C | ENSP00000438711.1:n.1679G>C | |
| ENST00000542898.5:c.*413G>C | ENSP00000444615.1:n.*413G>C | |
| ENST00000570511.5:c.1542G>C | ENSP00000458312.1:n.1542G>C | |
| ENST00000572244.5:c.827G>C | ENSP00000461186.1:n.827G>C | |
| ENST00000574583.5:c.909G>C | ENSP00000460269.1:n.909G>C | |
| ENST00000576315.5:c.942G>C | ENSP00000460551.1:n.942G>C | |
| ENST00000621655.1:c.1674G>C | ENSP00000481436.1:n.1674G>C | |
| NM_000243.2:c.2137G>C , LRG_190t1:c.2137G>C | NP_000234.1:p.Glu713Gln | |
| NM_001198536.1:c.*341G>C | NP_001185465.1:n.*341G>C | |
| XM_017023236.2:c.2134G>C | XP_016878725.1:p.Glu712Gln | |
| NM_000243.3:c.2137G>C MANE Select | NP_000234.1:p.Glu713Gln | |
| NM_001198536.2:c.*341G>C | NP_001185465.2:n.*341G>C |