Linked Data
ClinVar Variation Id:
235289
dbSNP Id:
rs61753339
ExAC:
2:220022915 C / T
gnomAD v2:
2-220022915-C-T
gnomAD v3:
2-219158193-C-T
gnomAD v4:
2-219158193-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219158193C>T , CM000664.2:g.219158193C>T | GRCh38 |
| NC_000002.11:g.220022915C>T , CM000664.1:g.220022915C>T | GRCh37 |
| NC_000002.10:g.219731159C>T | NCBI36 |
| NG_007880.1:g.7673G>A , LRG_90:g.7673G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426304.6:c.170G>A | ENSP00000394896.2:p.Arg57Gln | |
| ENST00000457600.3:c.170G>A | ENSP00000407201.2:p.Arg57Gln | |
| ENST00000698174.1:c.170G>A | ENSP00000513594.1:p.Arg57Gln | |
| ENST00000698175.1:c.170G>A | ENSP00000513595.1:p.Arg57Gln | |
| ENST00000698176.1:n.242G>A | ||
| ENST00000698202.1:c.170G>A | ENSP00000513605.1:p.Arg57Gln | |
| ENST00000698203.1:c.170G>A | ENSP00000513606.1:p.Arg57Gln | |
| ENST00000356853.10:c.170G>A MANE Select | ENSP00000349313.5:p.Arg57Gln | |
| ENST00000318673.6:c.*1292G>A | ENSP00000320919.3:n.*1292G>A | |
| ENST00000356853.9:c.170G>A | ENSP00000349313.5:p.Arg57Gln | |
| ENST00000409720.5:c.170G>A | ENSP00000387290.1:p.Arg57Gln | |
| ENST00000418099.5:c.170G>A | ENSP00000408966.1:p.Arg57Gln | |
| ENST00000450447.1:c.144+26G>A | ENSP00000408421.1:n.144+26G>A | |
| ENST00000457600.2:c.170G>A | ENSP00000407201.1:p.Arg57Gln | |
| ENST00000498327.5:n.2358G>A | ||
| NM_024782.2:c.170G>A , LRG_90t1:c.170G>A | NP_079058.1:p.Arg57Gln | |
| NM_001377498.1:c.170G>A | NP_001364427.1:p.Arg57Gln | |
| NM_001377499.1:c.170G>A | NP_001364428.1:p.Arg57Gln | |
| NM_024782.3:c.170G>A MANE Select | NP_079058.1:p.Arg57Gln | |
| NR_165304.1:n.266G>A |