Linked Data
ClinVar Variation Id:
2675349
ClinVar RCV Id:
RCV003468078
dbSNP Id:
rs1252692081
gnomAD v2:
15-80472533-G-A
gnomAD v4:
15-80180191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80180191G>A , CM000677.2:g.80180191G>A | GRCh38 |
| NC_000015.9:g.80472533G>A , CM000677.1:g.80472533G>A | GRCh37 |
| NC_000015.8:g.78259588G>A | NCBI36 |
| NG_012833.1:g.32193G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682012.1:n.1117G>A | ||
| ENST00000561421.6:c.1028G>A MANE Select | ENSP00000453347.2:p.Gly343Glu | |
| ENST00000646551.1:n.2642G>A | ||
| ENST00000261755.9:c.1028G>A | ENSP00000261755.5:p.Gly343Glu | |
| ENST00000407106.5:c.1028G>A | ENSP00000385080.1:p.Gly343Glu | |
| ENST00000539156.5:c.818G>A | ENSP00000454271.1:p.Gly273Glu | |
| ENST00000559217.1:n.245G>A | ||
| ENST00000561353.2:c.126G>A | ||
| ENST00000561421.5:c.1028G>A | ENSP00000453347.1:p.Gly343Glu | |
| NM_000137.2:c.1028G>A | NP_000128.1:p.Gly343Glu | |
| XM_024449872.1:c.1028G>A | XP_024305640.1:p.Gly343Glu | |
| NM_000137.4:c.1028G>A MANE Select | NP_000128.1:p.Gly343Glu | |
| NM_001374377.1:c.1028G>A | NP_001361306.1:p.Gly343Glu | |
| NM_001374380.1:c.1028G>A | NP_001361309.1:p.Gly343Glu |