Linked Data
ClinVar Variation Id:
2537587
ClinVar RCV Id:
RCV003286714
dbSNP Id:
rs747099777
ExAC:
5:40964853 C / A
gnomAD v2:
5-40964853-C-A
gnomAD v3:
5-40964751-C-A
gnomAD v4:
5-40964751-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40964751C>A , CM000667.2:g.40964751C>A | GRCh38 |
| NC_000005.9:g.40964853C>A , CM000667.1:g.40964853C>A | GRCh37 |
| NC_000005.8:g.41000610C>A | NCBI36 |
| NG_011692.1:g.60255C>A , LRG_30:g.60255C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486779.2:n.552C>A | ||
| ENST00000696333.1:c.1760C>A | ENSP00000512566.1:p.Thr587Lys | |
| ENST00000696441.1:c.1760C>A | ENSP00000512631.1:p.Thr587Lys | |
| ENST00000706664.1:n.1874C>A | ||
| ENST00000706666.1:n.1836C>A | ||
| ENST00000706667.1:n.2650C>A | ||
| ENST00000706668.1:n.2488C>A | ||
| ENST00000313164.10:c.1760C>A MANE Select | ENSP00000322061.9:p.Thr587Lys | |
| ENST00000313164.9:c.1760C>A | ENSP00000322061.9:p.Thr587Lys | |
| ENST00000486779.1:n.273C>A | ||
| NM_000587.2:c.1760C>A , LRG_30t1:c.1760C>A | NP_000578.2:p.Thr587Lys | |
| XM_011514122.1:c.1760C>A | XP_011512424.1:p.Thr587Lys | |
| NM_000587.3:c.1760C>A | NP_000578.2:p.Thr587Lys | |
| NM_000587.4:c.1760C>A MANE Select | NP_000578.2:p.Thr587Lys |