Linked Data
ClinVar Variation Id:
1475079
ClinVar RCV Id:
RCV002007790
dbSNP Id:
rs765576421
ExAC:
5:125882066 G / A
gnomAD v2:
5-125882066-G-A
gnomAD v3:
5-126546374-G-A
gnomAD v4:
5-126546374-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126546374G>A , CM000667.2:g.126546374G>A | GRCh38 |
| NC_000005.9:g.125882066G>A , CM000667.1:g.125882066G>A | GRCh37 |
| NC_000005.8:g.125909965G>A | NCBI36 |
| NG_008600.2:g.54017C>T | |
| NG_008600.3:g.54017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1515C>T MANE Select | ENSP00000387123.3:p.Gly505= | |
| ENST00000458249.6:c.*1424C>T | ENSP00000403929.1:n.*1424C>T | |
| ENST00000485852.7:n.262C>T | ||
| ENST00000497231.7:n.1942C>T | ||
| ENST00000635851.1:c.1513C>T | ||
| ENST00000636225.1:c.*1459C>T | ENSP00000490797.1:n.*1459C>T | |
| ENST00000636286.1:n.1280C>T | ||
| ENST00000636482.1:n.1049C>T | ||
| ENST00000636743.1:c.1395C>T | ENSP00000489725.1:p.Gly465= | |
| ENST00000636808.1:c.*1324C>T | ENSP00000490833.1:n.*1324C>T | |
| ENST00000636872.1:c.1675C>T | ENSP00000490919.1:n.1675C>T | |
| ENST00000636879.1:c.1560C>T | ENSP00000490811.1:p.Gly520= | |
| ENST00000636886.1:c.1314C>T | ENSP00000490371.1:p.Gly438= | |
| ENST00000637206.1:c.1335C>T | ENSP00000489895.1:p.Gly445= | |
| ENST00000637272.1:c.1506C>T | ENSP00000489686.1:p.Gly502= | |
| ENST00000637292.1:c.971C>T | ||
| ENST00000637782.1:c.1515C>T | ENSP00000490024.1:p.Gly505= | |
| ENST00000638008.1:c.*1359C>T | ENSP00000490400.1:n.*1359C>T | |
| ENST00000638010.1:n.1461C>T | ||
| ENST00000409134.7:c.1515C>T | ENSP00000387123.3:p.Gly505= | |
| ENST00000447989.6:c.1404C>T | ENSP00000414132.2:p.Gly468= | |
| ENST00000485852.6:n.262C>T | ||
| ENST00000497231.6:n.1725C>T | ||
| ENST00000553117.5:c.1323C>T | ENSP00000448593.1:p.Gly441= | |
| NM_001182.4:c.1515C>T | NP_001173.2:p.Gly505= | |
| NM_001201377.1:c.1431C>T | NP_001188306.1:p.Gly477= | |
| NM_001202404.1:c.1404C>T | NP_001189333.1:p.Gly468= | |
| XM_011543417.1:c.1110C>T | XP_011541719.1:p.Gly370= | |
| XM_011543417.2:c.1110C>T | XP_011541719.1:p.Gly370= | |
| NM_001182.5:c.1515C>T MANE Select | NP_001173.2:p.Gly505= | |
| NM_001201377.2:c.1431C>T | NP_001188306.1:p.Gly477= | |
| NM_001202404.2:c.1323C>T | NP_001189333.2:p.Gly441= |