Linked Data
ClinVar Variation Id:
935633
ClinVar RCV Id:
RCV001204272
dbSNP Id:
rs761013423
ExAC:
5:125880698 T / C
gnomAD v2:
5-125880698-T-C
gnomAD v4:
5-126545006-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126545006T>C , CM000667.2:g.126545006T>C | GRCh38 |
| NC_000005.9:g.125880698T>C , CM000667.1:g.125880698T>C | GRCh37 |
| NC_000005.8:g.125908597T>C | NCBI36 |
| NG_008600.2:g.55385A>G | |
| NG_008600.3:g.55385A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1579A>G MANE Select | ENSP00000387123.3:p.Ser527Gly | |
| ENST00000458249.6:c.*1488A>G | ENSP00000403929.1:n.*1488A>G | |
| ENST00000485852.7:n.326A>G | ||
| ENST00000497231.7:n.2006A>G | ||
| ENST00000635851.1:c.1563+1318A>G | ||
| ENST00000636286.1:n.1344A>G | ||
| ENST00000636482.1:n.1113A>G | ||
| ENST00000636743.1:c.1459A>G | ENSP00000489725.1:p.Ser487Gly | |
| ENST00000636808.1:c.*1388A>G | ENSP00000490833.1:n.*1388A>G | |
| ENST00000636872.1:c.1739A>G | ENSP00000490919.1:n.1739A>G | |
| ENST00000636879.1:c.1624A>G | ENSP00000490811.1:p.Ser542Gly | |
| ENST00000636886.1:c.1378A>G | ENSP00000490371.1:p.Ser460Gly | |
| ENST00000637206.1:c.1399A>G | ENSP00000489895.1:p.Ser467Gly | |
| ENST00000637272.1:c.1570A>G | ENSP00000489686.1:p.Ser524Gly | |
| ENST00000637292.1:c.1035A>G | ||
| ENST00000637782.1:c.1565+1318A>G | ENSP00000490024.1:n.1565+1318A>G | |
| ENST00000638008.1:c.*1423A>G | ENSP00000490400.1:n.*1423A>G | |
| ENST00000638010.1:n.1525A>G | ||
| ENST00000409134.7:c.1579A>G | ENSP00000387123.3:p.Ser527Gly | |
| ENST00000447989.6:c.1468A>G | ENSP00000414132.2:p.Ser490Gly | |
| ENST00000485852.6:n.326A>G | ||
| ENST00000497231.6:n.1789A>G | ||
| ENST00000553117.5:c.1387A>G | ENSP00000448593.1:p.Ser463Gly | |
| NM_001182.4:c.1579A>G | NP_001173.2:p.Ser527Gly | |
| NM_001201377.1:c.1495A>G | NP_001188306.1:p.Ser499Gly | |
| NM_001202404.1:c.1468A>G | NP_001189333.1:p.Ser490Gly | |
| XM_011543417.1:c.1174A>G | XP_011541719.1:p.Ser392Gly | |
| XM_011543417.2:c.1174A>G | XP_011541719.1:p.Ser392Gly | |
| NM_001182.5:c.1579A>G MANE Select | NP_001173.2:p.Ser527Gly | |
| NM_001201377.2:c.1495A>G | NP_001188306.1:p.Ser499Gly | |
| NM_001202404.2:c.1387A>G | NP_001189333.2:p.Ser463Gly |