Linked Data
ClinVar Variation Id:
889447
dbSNP Id:
rs747991001
ExAC:
17:45360815 C / G
gnomAD v2:
17-45360815-C-G
gnomAD v3:
17-47283449-C-G
gnomAD v4:
17-47283449-C-G
ERepo:
CA8622902/MONDO:0100326/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283449C>G , CM000679.2:g.47283449C>G | GRCh38 |
| NC_000017.10:g.45360815C>G , CM000679.1:g.45360815C>G | GRCh37 |
| NC_000017.9:g.42715814C>G | NCBI36 |
| NG_008332.2:g.34608C>G , LRG_481:g.34608C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.261C>G | ENSP00000513002.1:p.Ala87= | |
| ENST00000559488.7:c.261C>G MANE Select | ENSP00000452786.2:p.Ala87= | |
| ENST00000559488.5:c.261C>G | ENSP00000452786.1:p.Ala87= | |
| ENST00000560629.1:c.226C>G | ||
| ENST00000571680.1:c.261C>G | ENSP00000461626.1:p.Ala87= | |
| NM_000212.2:c.261C>G , LRG_481t1:c.261C>G | NP_000203.2:p.Ala87= | |
| NM_000212.3:c.261C>G MANE Select | NP_000203.2:p.Ala87= |