Linked Data
ClinVar Variation Id:
128031
ClinVar RCV Id:
RCV000210093
RCV000229815
RCV000561749
RCV000714291
RCV001391199
RCV001582580
RCV003335104
RCV003335105
RCV003492500
dbSNP Id:
rs138213197
ExAC:
17:46805705 C / T
gnomAD v2:
17-46805705-C-T
gnomAD v3:
17-48728343-C-T
gnomAD v4:
17-48728343-C-T
COSMIC:
COSM3889825
CIViC:
CA288225
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48728343C>T , CM000679.2:g.48728343C>T | GRCh38 |
| NC_000017.10:g.46805705C>T , CM000679.1:g.46805705C>T | GRCh37 |
| NC_000017.9:g.44160704C>T | NCBI36 |
| NG_033789.1:g.5407G>A , LRG_771:g.5407G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290295.8:c.251G>A MANE Select | ENSP00000290295.8:p.Gly84Glu | |
| ENST00000290295.7:c.251G>A | ENSP00000290295.7:p.Gly84Glu | |
| NM_006361.5:c.251G>A , LRG_771t1:c.251G>A | NP_006352.2:p.Gly84Glu | |
| NM_006361.6:c.251G>A MANE Select | NP_006352.2:p.Gly84Glu |