Linked Data
dbSNP Id:
rs769486215
ExAC:
7:5680820 C / G
gnomAD v2:
7-5680820-C-G
gnomAD v4:
7-5641189-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5641189C>G , CM000669.2:g.5641189C>G | GRCh38 |
| NC_000007.13:g.5680820C>G , CM000669.1:g.5680820C>G | GRCh37 |
| NC_000007.12:g.5647346C>G | NCBI36 |
| NG_029374.1:g.145542G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389902.8:c.2347G>C MANE Select | ENSP00000374552.3:p.Glu783Gln | |
| ENST00000389900.8:c.*1464G>C | ENSP00000374550.4:n.*1464G>C | |
| ENST00000389902.7:c.2347G>C | ENSP00000374552.3:p.Glu783Gln | |
| ENST00000425013.6:c.2176G>C | ENSP00000404602.2:p.Glu726Gln | |
| ENST00000469375.1:n.564G>C | ||
| NM_207111.3:c.2347G>C | NP_996994.1:p.Glu783Gln | |
| NM_207116.2:c.2176G>C | NP_996999.1:p.Glu726Gln | |
| XM_005249785.2:c.2347G>C | XP_005249842.1:p.Glu783Gln | |
| XM_006715748.1:c.1042G>C | XP_006715811.1:p.Glu348Gln | |
| XM_011515434.1:c.2347G>C | XP_011513736.1:p.Glu783Gln | |
| XM_011515436.1:c.1042G>C | XP_011513738.1:p.Glu348Gln | |
| XM_011515436.2:c.1042G>C | XP_011513738.1:p.Glu348Gln | |
| XM_017012363.2:c.2176G>C | XP_016867852.1:p.Glu726Gln | |
| XM_024446805.1:c.2347G>C | XP_024302573.1:p.Glu783Gln | |
| XM_024446806.1:c.1042G>C | XP_024302574.1:p.Glu348Gln | |
| XM_024446807.1:c.1042G>C | XP_024302575.1:p.Glu348Gln | |
| NM_001377156.1:c.2176G>C | NP_001364085.1:p.Glu726Gln | |
| NM_207111.4:c.2347G>C MANE Select | NP_996994.1:p.Glu783Gln | |
| NM_207116.3:c.2176G>C | NP_996999.1:p.Glu726Gln |