Linked Data
ClinVar Variation Id:
953400
ClinVar RCV Id:
RCV001225689
dbSNP Id:
rs1423535503
gnomAD v2:
5-125885644-C-T
gnomAD v4:
5-126549952-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126549952C>T , CM000667.2:g.126549952C>T | GRCh38 |
| NC_000005.9:g.125885644C>T , CM000667.1:g.125885644C>T | GRCh37 |
| NC_000005.8:g.125913543C>T | NCBI36 |
| NG_008600.2:g.50439G>A | |
| NG_008600.3:g.50439G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1466G>A MANE Select | ENSP00000387123.3:p.Gly489Glu | |
| ENST00000458249.6:c.*1375G>A | ENSP00000403929.1:n.*1375G>A | |
| ENST00000485852.7:n.213G>A | ||
| ENST00000497231.7:n.1893G>A | ||
| ENST00000635851.1:c.1464G>A | ||
| ENST00000636062.1:n.1361G>A | ||
| ENST00000636225.1:c.*1410G>A | ENSP00000490797.1:n.*1410G>A | |
| ENST00000636286.1:n.1231G>A | ||
| ENST00000636482.1:n.1000G>A | ||
| ENST00000636743.1:c.1346G>A | ENSP00000489725.1:p.Gly449Glu | |
| ENST00000636808.1:c.*1275G>A | ENSP00000490833.1:n.*1275G>A | |
| ENST00000636872.1:c.1626G>A | ENSP00000490919.1:n.1626G>A | |
| ENST00000636879.1:c.1511G>A | ENSP00000490811.1:p.Gly504Glu | |
| ENST00000636886.1:c.1265G>A | ENSP00000490371.1:p.Gly422Glu | |
| ENST00000637206.1:c.1286G>A | ENSP00000489895.1:p.Gly429Glu | |
| ENST00000637272.1:c.1457G>A | ENSP00000489686.1:p.Gly486Glu | |
| ENST00000637292.1:c.922G>A | ||
| ENST00000637782.1:c.1466G>A | ENSP00000490024.1:p.Gly489Glu | |
| ENST00000638008.1:c.*1310G>A | ENSP00000490400.1:n.*1310G>A | |
| ENST00000638010.1:n.1412G>A | ||
| ENST00000409134.7:c.1466G>A | ENSP00000387123.3:p.Gly489Glu | |
| ENST00000447989.6:c.1355G>A | ENSP00000414132.2:p.Gly452Glu | |
| ENST00000476328.1:n.424G>A | ||
| ENST00000485852.6:n.213G>A | ||
| ENST00000497231.6:n.1676G>A | ||
| ENST00000553117.5:c.1274G>A | ENSP00000448593.1:p.Gly425Glu | |
| NM_001182.4:c.1466G>A | NP_001173.2:p.Gly489Glu | |
| NM_001201377.1:c.1382G>A | NP_001188306.1:p.Gly461Glu | |
| NM_001202404.1:c.1355G>A | NP_001189333.1:p.Gly452Glu | |
| XM_011543417.1:c.1061G>A | XP_011541719.1:p.Gly354Glu | |
| XM_011543417.2:c.1061G>A | XP_011541719.1:p.Gly354Glu | |
| NM_001182.5:c.1466G>A MANE Select | NP_001173.2:p.Gly489Glu | |
| NM_001201377.2:c.1382G>A | NP_001188306.1:p.Gly461Glu | |
| NM_001202404.2:c.1274G>A | NP_001189333.2:p.Gly425Glu |