Linked Data
ClinVar Variation Id:
1031546
ClinVar RCV Id:
RCV001333408
dbSNP Id:
rs376742471
ExAC:
8:82586154 C / G
gnomAD v2:
8-82586154-C-G
gnomAD v3:
8-81673919-C-G
gnomAD v4:
8-81673919-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81673919C>G , CM000670.2:g.81673919C>G | GRCh38 |
| NC_000008.10:g.82586154C>G , CM000670.1:g.82586154C>G | GRCh37 |
| NC_000008.9:g.82748709C>G | NCBI36 |
| NG_015829.1:g.17436G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256108.10:c.379G>C MANE Select | ENSP00000256108.5:p.Glu127Gln | |
| ENST00000256108.9:c.379G>C | ENSP00000256108.5:p.Glu127Gln | |
| ENST00000311489.8:c.379G>C | ENSP00000311803.4:p.Glu127Gln | |
| ENST00000449740.6:c.556G>C | ENSP00000408526.2:p.Glu186Gln | |
| ENST00000518188.5:c.*27G>C | ENSP00000428812.1:n.*27G>C | |
| ENST00000518202.5:c.472G>C | ENSP00000429516.1:p.Glu158Gln | |
| ENST00000519816.1:c.*158G>C | ENSP00000428594.1:n.*158G>C | |
| ENST00000519964.5:c.355G>C | ENSP00000429322.1:p.Glu119Gln | |
| ENST00000520065.1:n.503G>C | ||
| ENST00000521360.5:c.274G>C | ENSP00000430283.1:p.Glu92Gln | |
| ENST00000521979.5:c.*35G>C | ENSP00000428425.1:n.*35G>C | |
| ENST00000522997.5:c.556G>C | ENSP00000430081.1:p.Glu186Gln | |
| ENST00000523710.5:n.449G>C | ||
| ENST00000523942.5:c.452G>C | ||
| NM_001144878.1:c.556G>C | NP_001138350.1:p.Glu186Gln | |
| NM_001144879.1:c.379G>C | NP_001138351.1:p.Glu127Gln | |
| NM_005536.3:c.379G>C | NP_005527.1:p.Glu127Gln | |
| NM_005536.4:c.379G>C MANE Select | NP_005527.1:p.Glu127Gln | |
| NM_001144878.2:c.556G>C | NP_001138350.1:p.Glu186Gln | |
| NM_001144879.2:c.379G>C | NP_001138351.1:p.Glu127Gln |