Linked Data
ClinVar Variation Id:
375528
ClinVar RCV Id:
RCV000417030
dbSNP Id:
rs1057519546
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33432806G>A , CM000668.2:g.33432806G>A | GRCh38 |
| NC_000006.11:g.33400583G>A , CM000668.1:g.33400583G>A | GRCh37 |
| NC_000006.10:g.33508561G>A | NCBI36 |
| NG_016137.1:g.17737G>A | |
| NG_016137.2:g.17737G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.251G>A | ENSP00000507403.1:p.Arg84Gln | |
| ENST00000418600.7:c.509G>A | ENSP00000403636.3:p.Arg170Gln | |
| ENST00000449372.7:c.509G>A | ENSP00000416519.4:p.Arg170Gln | |
| ENST00000629380.3:c.509G>A | ENSP00000486463.1:p.Arg170Gln | |
| ENST00000638142.2:c.509G>A | ENSP00000490803.1:p.Arg170Gln | |
| ENST00000644458.1:c.509G>A | ENSP00000495541.1:p.Arg170Gln | |
| ENST00000645250.1:c.332G>A | ENSP00000494861.1:p.Arg111Gln | |
| ENST00000646630.1:c.509G>A MANE Select | ENSP00000496007.1:p.Arg170Gln | |
| ENST00000293748.9:c.464G>A | ENSP00000293748.6:p.Arg155Gln | |
| ENST00000418600.6:c.509G>A | ENSP00000403636.3:p.Arg170Gln | |
| ENST00000428982.4:c.332G>A | ENSP00000412475.2:p.Arg111Gln | |
| ENST00000449372.6:c.509G>A | ENSP00000416519.3:p.Arg170Gln | |
| ENST00000479510.2:n.704G>A | ||
| ENST00000628646.2:c.509G>A | ENSP00000486431.1:p.Arg170Gln | |
| ENST00000629380.2:c.509G>A | ENSP00000486463.1:p.Arg170Gln | |
| NM_006772.2:c.509G>A | NP_006763.2:p.Arg170Gln | |
| NM_001130066.1:c.509G>A | NP_001123538.1:p.Arg170Gln | |
| NM_001130066.2:c.509G>A | NP_001123538.1:p.Arg170Gln | |
| NM_006772.3:c.509G>A MANE Select | NP_006763.2:p.Arg170Gln |