Linked Data
ClinVar Variation Id:
241478
ClinVar RCV Id:
RCV000229513
RCV001105881
RCV001104737
RCV001105882
RCV001563568
RCV001820764
RCV002257598
RCV002519803
dbSNP Id:
rs374404615
ExAC:
11:32456714 C / T
gnomAD v2:
11-32456714-C-T
gnomAD v3:
11-32435168-C-T
gnomAD v4:
11-32435168-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32435168C>T , CM000673.2:g.32435168C>T | GRCh38 |
| NC_000011.9:g.32456714C>T , CM000673.1:g.32456714C>T | GRCh37 |
| NC_000011.8:g.32413290C>T | NCBI36 |
| NG_009272.1:g.5374G>A , LRG_525:g.5374G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.193G>A | ENSP00000331327.5:p.Gly65Arg | |
| ENST00000379077.9:c.193G>A | ENSP00000368368.5:p.Gly65Arg | |
| ENST00000448076.9:c.193G>A | ENSP00000413452.5:p.Gly65Arg | |
| ENST00000452863.10:c.193G>A MANE Select | ENSP00000415516.5:p.Gly65Arg | |
| ENST00000639563.3:c.193G>A | ENSP00000492269.3:p.Gly65Arg | |
| ENST00000332351.7:c.178G>A | ENSP00000331327.3:p.Gly60Arg | |
| ENST00000379077.7:c.178G>A | ENSP00000368368.3:p.Gly60Arg | |
| ENST00000448076.7:c.178G>A | ENSP00000413452.3:p.Gly60Arg | |
| ENST00000452863.7:c.178G>A | ENSP00000415516.3:p.Gly60Arg | |
| NM_000378.4:c.178G>A | NP_000369.3:p.Gly60Arg | |
| NM_024424.3:c.178G>A | NP_077742.2:p.Gly60Arg | |
| NM_024426.4:c.178G>A | NP_077744.3:p.Gly60Arg | |
| NM_000378.5:c.193G>A | NP_000369.4:p.Gly65Arg | |
| NM_024424.4:c.193G>A | NP_077742.3:p.Gly65Arg | |
| NM_024426.5:c.193G>A | NP_077744.4:p.Gly65Arg | |
| NR_160306.1:n.372G>A | ||
| NM_000378.6:c.193G>A | NP_000369.4:p.Gly65Arg | |
| NM_024424.5:c.193G>A | NP_077742.3:p.Gly65Arg | |
| NM_024426.6:c.193G>A MANE Select | NP_077744.4:p.Gly65Arg |