Linked Data
ClinVar Variation Id:
1384929
ClinVar RCV Id:
RCV001902704
dbSNP Id:
rs571577993
ExAC:
5:40964909 A / G
gnomAD v2:
5-40964909-A-G
gnomAD v3:
5-40964807-A-G
gnomAD v4:
5-40964807-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40964807A>G , CM000667.2:g.40964807A>G | GRCh38 |
| NC_000005.9:g.40964909A>G , CM000667.1:g.40964909A>G | GRCh37 |
| NC_000005.8:g.41000666A>G | NCBI36 |
| NG_011692.1:g.60311A>G , LRG_30:g.60311A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486779.2:n.608A>G | ||
| ENST00000696333.1:c.1816A>G | ENSP00000512566.1:p.Ile606Val | |
| ENST00000696441.1:c.1816A>G | ENSP00000512631.1:p.Ile606Val | |
| ENST00000706664.1:n.1930A>G | ||
| ENST00000706666.1:n.1892A>G | ||
| ENST00000706667.1:n.2706A>G | ||
| ENST00000706668.1:n.2544A>G | ||
| ENST00000313164.10:c.1816A>G MANE Select | ENSP00000322061.9:p.Ile606Val | |
| ENST00000313164.9:c.1816A>G | ENSP00000322061.9:p.Ile606Val | |
| ENST00000486779.1:n.329A>G | ||
| NM_000587.2:c.1816A>G , LRG_30t1:c.1816A>G | NP_000578.2:p.Ile606Val | |
| XM_011514122.1:c.1816A>G | XP_011512424.1:p.Ile606Val | |
| NM_000587.3:c.1816A>G | NP_000578.2:p.Ile606Val | |
| NM_000587.4:c.1816A>G MANE Select | NP_000578.2:p.Ile606Val |