Linked Data
ClinVar Variation Id:
965946
dbSNP Id:
rs371007945
ExAC:
2:73800037 G / A
gnomAD v2:
2-73800037-G-A
gnomAD v3:
2-73572910-G-A
gnomAD v4:
2-73572910-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572910G>A , CM000664.2:g.73572910G>A | GRCh38 |
| NC_000002.11:g.73800037G>A , CM000664.1:g.73800037G>A | GRCh37 |
| NC_000002.10:g.73653545G>A | NCBI36 |
| NG_011690.1:g.192158G>A , LRG_741:g.192158G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10652G>A | ENSP00000507671.1:p.Arg3551Gln | |
| ENST00000682801.1:c.10652G>A | ENSP00000507862.1:p.Arg3551Gln | |
| ENST00000682859.1:c.10652G>A | ENSP00000508222.1:p.Arg3551Gln | |
| ENST00000683791.1:c.3738G>A | ||
| ENST00000684460.1:c.7933G>A | ||
| ENST00000684548.1:c.10652G>A | ENSP00000507421.1:p.Arg3551Gln | |
| ENST00000684590.1:c.5099G>A | ENSP00000507376.1:p.Arg1700Gln | |
| ENST00000684656.1:c.7978G>A | ||
| ENST00000613296.6:c.11033G>A MANE Select | ENSP00000482968.1:p.Arg3678Gln | |
| ENST00000651057.1:c.1187G>A | ENSP00000498504.1:p.Arg396Gln | |
| ENST00000651434.1:c.2389G>A | ||
| ENST00000651750.1:c.421G>A | ||
| ENST00000652487.1:c.2130G>A | ||
| ENST00000423048.5:c.4524G>A | ENSP00000399833.1:n.4524G>A | |
| ENST00000484298.5:c.10907G>A | ENSP00000478155.1:p.Arg3636Gln | |
| ENST00000613296.4:c.11033G>A | ENSP00000482968.1:p.Arg3678Gln | |
| ENST00000614410.4:c.11033G>A | ENSP00000479094.1:p.Arg3678Gln | |
| ENST00000620466.4:n.4836G>A | ||
| NM_015120.4:c.11036G>A , LRG_741t1:c.11036G>A | NP_055935.4:p.Arg3679Gln | |
| NM_001378454.1:c.11033G>A MANE Select | NP_001365383.1:p.Arg3678Gln |