Linked Data
ClinVar Variation Id:
183341
dbSNP Id:
rs730882241
ExAC:
1:231131622 G / A
gnomAD v2:
1-231131622-G-A
gnomAD v3:
1-230995876-G-A
gnomAD v4:
1-230995876-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230995876G>A , CM000663.2:g.230995876G>A | GRCh38 |
| NC_000001.10:g.231131622G>A , CM000663.1:g.231131622G>A | GRCh37 |
| NC_000001.9:g.229198245G>A | NCBI36 |
| NG_052022.1:g.21828G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310256.7:c.565G>A MANE Select | ENSP00000312458.2:p.Gly189Arg | |
| ENST00000310256.6:c.565G>A | ENSP00000312458.2:p.Gly189Arg | |
| ENST00000366658.6:c.445G>A | ENSP00000355618.2:p.Gly149Arg | |
| ENST00000435927.5:c.624G>A | ||
| ENST00000450711.5:c.555G>A | ||
| ENST00000459891.1:c.117G>A | ||
| ENST00000480519.5:c.493G>A | ENSP00000436763.1:p.Gly165Arg | |
| ENST00000497753.1:n.930G>A | ||
| NM_022786.1:c.565G>A | NP_073623.1:p.Gly189Arg | |
| XR_949154.1:n.596G>A | ||
| NM_001346992.1:c.664G>A | NP_001333921.1:p.Gly222Arg | |
| NM_022786.2:c.565G>A | NP_073623.1:p.Gly189Arg | |
| NR_144538.1:n.622G>A | ||
| XM_024449202.1:c.688G>A | XP_024304970.1:p.Gly230Arg | |
| XR_002957381.1:n.712G>A | ||
| NM_022786.3:c.565G>A MANE Select | NP_073623.1:p.Gly189Arg | |
| NM_001346992.2:c.664G>A | NP_001333921.1:p.Gly222Arg | |
| NR_144538.2:n.577G>A |