Linked Data
ClinVar Variation Id:
13561
dbSNP Id:
rs13306487
ExAC:
17:45369788 G / A
gnomAD v2:
17-45369788-G-A
gnomAD v3:
17-47292422-G-A
gnomAD v4:
17-47292422-G-A
ERepo:
CA123241/MONDO:0010119/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47292422G>A , CM000679.2:g.47292422G>A | GRCh38 |
| NC_000017.10:g.45369788G>A , CM000679.1:g.45369788G>A | GRCh37 |
| NC_000017.9:g.42724787G>A | NCBI36 |
| NG_008332.2:g.43581G>A , LRG_481:g.43581G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.1544G>A | ENSP00000513002.1:p.Arg515Gln | |
| ENST00000559488.7:c.1544G>A MANE Select | ENSP00000452786.2:p.Arg515Gln | |
| ENST00000559488.5:c.1544G>A | ENSP00000452786.1:p.Arg515Gln | |
| ENST00000560629.1:c.1509G>A | ||
| NM_000212.2:c.1544G>A , LRG_481t1:c.1544G>A | NP_000203.2:p.Arg515Gln | |
| NM_000212.3:c.1544G>A MANE Select | NP_000203.2:p.Arg515Gln |