Linked Data
ClinVar Variation Id:
429577
dbSNP Id:
rs780233639
ExAC:
5:125887798 G / A
gnomAD v2:
5-125887798-G-A
gnomAD v3:
5-126552106-G-A
gnomAD v4:
5-126552106-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126552106G>A , CM000667.2:g.126552106G>A | GRCh38 |
| NC_000005.9:g.125887798G>A , CM000667.1:g.125887798G>A | GRCh37 |
| NC_000005.8:g.125915697G>A | NCBI36 |
| NG_008600.2:g.48285C>T | |
| NG_008600.3:g.48285C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1232C>T MANE Select | ENSP00000387123.3:p.Pro411Leu | |
| ENST00000458249.6:c.*1141C>T | ENSP00000403929.1:n.*1141C>T | |
| ENST00000497231.7:n.1659C>T | ||
| ENST00000503281.6:c.821C>T | ||
| ENST00000635851.1:c.1230C>T | ||
| ENST00000636062.1:n.1127C>T | ||
| ENST00000636225.1:c.*1176C>T | ENSP00000490797.1:n.*1176C>T | |
| ENST00000636286.1:n.950C>T | ||
| ENST00000636482.1:n.719C>T | ||
| ENST00000636743.1:c.1112C>T | ENSP00000489725.1:p.Pro371Leu | |
| ENST00000636808.1:c.*1041C>T | ENSP00000490833.1:n.*1041C>T | |
| ENST00000636872.1:c.1392C>T | ENSP00000490919.1:n.1392C>T | |
| ENST00000636879.1:c.1277C>T | ENSP00000490811.1:p.Pro426Leu | |
| ENST00000636886.1:c.1031C>T | ENSP00000490371.1:p.Pro344Leu | |
| ENST00000637206.1:c.1052C>T | ENSP00000489895.1:p.Pro351Leu | |
| ENST00000637272.1:c.1223C>T | ENSP00000489686.1:p.Pro408Leu | |
| ENST00000637292.1:c.774-1813C>T | ||
| ENST00000637782.1:c.1232C>T | ENSP00000490024.1:p.Pro411Leu | |
| ENST00000638008.1:c.*1076C>T | ENSP00000490400.1:n.*1076C>T | |
| ENST00000638010.1:n.1178C>T | ||
| ENST00000409134.7:c.1232C>T | ENSP00000387123.3:p.Pro411Leu | |
| ENST00000447989.6:c.1121C>T | ENSP00000414132.2:p.Pro374Leu | |
| ENST00000497231.6:n.1442C>T | ||
| ENST00000503281.5:c.821C>T | ||
| ENST00000553117.5:c.1040C>T | ENSP00000448593.1:p.Pro347Leu | |
| NM_001182.4:c.1232C>T | NP_001173.2:p.Pro411Leu | |
| NM_001201377.1:c.1148C>T | NP_001188306.1:p.Pro383Leu | |
| NM_001202404.1:c.1121C>T | NP_001189333.1:p.Pro374Leu | |
| XM_011543417.1:c.827C>T | XP_011541719.1:p.Pro276Leu | |
| XM_011543417.2:c.827C>T | XP_011541719.1:p.Pro276Leu | |
| NM_001182.5:c.1232C>T MANE Select | NP_001173.2:p.Pro411Leu | |
| NM_001201377.2:c.1148C>T | NP_001188306.1:p.Pro383Leu | |
| NM_001202404.2:c.1040C>T | NP_001189333.2:p.Pro347Leu |