Linked Data
ClinVar Variation Id:
480871
ClinVar RCV Id:
RCV003316737
dbSNP Id:
rs9900627
ExAC:
17:46805443 A / G
gnomAD v2:
17-46805443-A-G
gnomAD v3:
17-48728081-A-G
gnomAD v4:
17-48728081-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48728081A>G , CM000679.2:g.48728081A>G | GRCh38 |
| NC_000017.10:g.46805443A>G , CM000679.1:g.46805443A>G | GRCh37 |
| NC_000017.9:g.44160442A>G | NCBI36 |
| NG_033789.1:g.5669T>C , LRG_771:g.5669T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290295.8:c.513T>C MANE Select | ENSP00000290295.8:p.Ser171= | |
| ENST00000290295.7:c.513T>C | ENSP00000290295.7:p.Ser171= | |
| NM_006361.5:c.513T>C , LRG_771t1:c.513T>C | NP_006352.2:p.Ser171= | |
| NM_006361.6:c.513T>C MANE Select | NP_006352.2:p.Ser171= |