Linked Data
ClinVar Variation Id:
451941
dbSNP Id:
rs200979896
ExAC:
2:73680481 G / A
gnomAD v2:
2-73680481-G-A
gnomAD v3:
2-73453354-G-A
gnomAD v4:
2-73453354-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73453354G>A , CM000664.2:g.73453354G>A | GRCh38 |
| NC_000002.11:g.73680481G>A , CM000664.1:g.73680481G>A | GRCh37 |
| NC_000002.10:g.73533989G>A | NCBI36 |
| NG_011690.1:g.72602G>A , LRG_741:g.72602G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.6446G>A | ENSP00000507671.1:p.Arg2149Gln | |
| ENST00000682801.1:c.6446G>A | ENSP00000507862.1:p.Arg2149Gln | |
| ENST00000682859.1:c.6446G>A | ENSP00000508222.1:p.Arg2149Gln | |
| ENST00000683791.1:c.685+21063G>A | ||
| ENST00000684197.1:n.1796G>A | ||
| ENST00000684460.1:c.3898G>A | ||
| ENST00000684548.1:c.6446G>A | ENSP00000507421.1:p.Arg2149Gln | |
| ENST00000684590.1:c.944G>A | ENSP00000507376.1:p.Arg315Gln | |
| ENST00000684656.1:c.3898G>A | ||
| ENST00000613296.6:c.6827G>A MANE Select | ENSP00000482968.1:p.Arg2276Gln | |
| ENST00000651434.1:c.48G>A | ||
| ENST00000423048.5:c.1658G>A | ENSP00000399833.1:p.Arg553Gln | |
| ENST00000484298.5:c.6701G>A | ENSP00000478155.1:p.Arg2234Gln | |
| ENST00000613296.4:c.6827G>A | ENSP00000482968.1:p.Arg2276Gln | |
| ENST00000614410.4:c.6827G>A | ENSP00000479094.1:p.Arg2276Gln | |
| ENST00000620466.4:n.630G>A | ||
| NM_015120.4:c.6830G>A , LRG_741t1:c.6830G>A | NP_055935.4:p.Arg2277Gln | |
| NM_001378454.1:c.6827G>A MANE Select | NP_001365383.1:p.Arg2276Gln |