Linked Data
ClinVar Variation Id:
2845700
ClinVar RCV Id:
RCV003744481
dbSNP Id:
rs1782769260
gnomAD v3:
7-30612109-G-C
gnomAD v4:
7-30612109-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30612109G>C , CM000669.2:g.30612109G>C | GRCh38 |
| NC_000007.13:g.30651725G>C , CM000669.1:g.30651725G>C | GRCh37 |
| NC_000007.12:g.30618250G>C | NCBI36 |
| NG_007942.1:g.22545G>C , LRG_243:g.22545G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.895G>C MANE Select | ENSP00000373918.3:p.Glu299Gln | |
| ENST00000444666.6:c.895G>C | ENSP00000415447.2:p.Glu299Gln | |
| ENST00000470392.2:n.985G>C | ||
| ENST00000478124.6:n.958G>C | ||
| ENST00000485784.2:n.974G>C | ||
| ENST00000674616.1:c.*609G>C | ENSP00000502408.1:n.*609G>C | |
| ENST00000674643.1:c.895G>C | ENSP00000501636.1:p.Glu299Gln | |
| ENST00000674734.1:n.1391G>C | ||
| ENST00000674737.1:c.*233G>C | ENSP00000502464.1:n.*233G>C | |
| ENST00000674807.1:c.895G>C | ENSP00000502814.1:p.Glu299Gln | |
| ENST00000674815.1:c.526G>C | ENSP00000502799.1:p.Glu176Gln | |
| ENST00000674851.1:c.526G>C | ENSP00000502451.1:p.Glu176Gln | |
| ENST00000674969.1:n.2768G>C | ||
| ENST00000675051.1:c.694G>C | ENSP00000502296.1:p.Glu232Gln | |
| ENST00000675529.1:c.*765G>C | ENSP00000501655.1:n.*765G>C | |
| ENST00000675587.1:n.911G>C | ||
| ENST00000675651.1:c.895G>C | ENSP00000502513.1:p.Glu299Gln | |
| ENST00000675693.1:c.727G>C | ENSP00000502174.1:p.Glu243Gln | |
| ENST00000675810.1:c.793G>C | ENSP00000502743.1:p.Glu265Gln | |
| ENST00000675859.1:c.895G>C | ENSP00000502033.1:p.Glu299Gln | |
| ENST00000675863.1:n.903G>C | ||
| ENST00000675886.1:n.6935G>C | ||
| ENST00000676088.1:c.*837G>C | ENSP00000501884.1:n.*837G>C | |
| ENST00000676140.1:c.895G>C | ENSP00000502571.1:p.Glu299Gln | |
| ENST00000676164.1:c.*346G>C | ENSP00000501986.1:n.*346G>C | |
| ENST00000676210.1:c.*184G>C | ENSP00000502373.1:n.*184G>C | |
| ENST00000676259.1:c.*327G>C | ENSP00000501980.1:n.*327G>C | |
| ENST00000676403.1:c.895G>C | ENSP00000502681.1:p.Glu299Gln | |
| ENST00000389266.7:c.895G>C | ENSP00000373918.3:p.Glu299Gln | |
| ENST00000478124.5:n.933G>C | ||
| NM_001316772.1:c.733G>C | NP_001303701.1:p.Glu245Gln | |
| NM_002047.2:c.895G>C , LRG_243t1:c.895G>C | NP_002038.2:p.Glu299Gln | |
| NM_002047.3:c.895G>C | NP_002038.2:p.Glu299Gln | |
| XM_006715686.1:c.526G>C | XP_006715749.1:p.Glu176Gln | |
| XM_006715686.2:c.526G>C | XP_006715749.1:p.Glu176Gln | |
| NM_002047.4:c.895G>C MANE Select | NP_002038.2:p.Glu299Gln |