Linked Data
ClinVar Variation Id:
543249
dbSNP Id:
rs765541693
ExAC:
1:10425622 C / T
gnomAD v2:
1-10425622-C-T
gnomAD v3:
1-10365564-C-T
gnomAD v4:
1-10365564-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10365564C>T , CM000663.2:g.10365564C>T | GRCh38 |
| NC_000001.10:g.10425622C>T , CM000663.1:g.10425622C>T | GRCh37 |
| NC_000001.9:g.10348209C>T | NCBI36 |
| NG_008069.1:g.159859C>T , LRG_252:g.159859C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696502.1:c.4731C>T | ENSP00000512668.1:p.Ser1577= | |
| ENST00000696503.1:c.4593C>T | ENSP00000512669.1:p.Ser1531= | |
| ENST00000696504.1:c.4593C>T | ENSP00000512670.1:p.Ser1531= | |
| ENST00000676179.1:c.4668C>T MANE Select | ENSP00000502065.1:p.Ser1556= | |
| ENST00000263934.10:c.4530C>T | ENSP00000263934.6:p.Ser1510= | |
| ENST00000377081.5:c.4668C>T | ENSP00000366284.1:p.Ser1556= | |
| ENST00000377086.5:c.4668C>T | ENSP00000366290.1:p.Ser1556= | |
| ENST00000470616.1:n.399C>T | ||
| ENST00000620295.2:c.4626C>T | ENSP00000478500.1:p.Ser1542= | |
| ENST00000622724.3:c.4590C>T | ENSP00000480063.1:p.Ser1530= | |
| ENST00000635499.1:c.713C>T | ||
| NM_015074.3:c.4530C>T , LRG_252t1:c.4530C>T | NP_055889.2:p.Ser1510= | |
| XR_946953.1:n.355+817G>A | ||
| NM_001365951.1:c.4668C>T | NP_001352880.1:p.Ser1556= | |
| NM_001365952.1:c.4668C>T | NP_001352881.1:p.Ser1556= | |
| XR_946953.2:n.230+817G>A | ||
| NM_001365951.3:c.4668C>T MANE Select | NP_001352880.1:p.Ser1556= |