Linked Data
ClinVar Variation Id:
2887055
ClinVar RCV Id:
RCV003722207
dbSNP Id:
rs765078053
gnomAD v2:
17-45363683-C-G
gnomAD v4:
17-47286317-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286317C>G , CM000679.2:g.47286317C>G | GRCh38 |
| NC_000017.10:g.45363683C>G , CM000679.1:g.45363683C>G | GRCh37 |
| NC_000017.9:g.42718682C>G | NCBI36 |
| NG_008332.2:g.37476C>G , LRG_481:g.37476C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.672C>G | ENSP00000513002.1:p.Asp224Glu | |
| ENST00000559488.7:c.672C>G MANE Select | ENSP00000452786.2:p.Asp224Glu | |
| ENST00000559488.5:c.672C>G | ENSP00000452786.1:p.Asp224Glu | |
| ENST00000560629.1:c.637C>G | ||
| ENST00000571680.1:c.672C>G | ENSP00000461626.1:p.Asp224Glu | |
| NM_000212.2:c.672C>G , LRG_481t1:c.672C>G | NP_000203.2:p.Asp224Glu | |
| NM_000212.3:c.672C>G MANE Select | NP_000203.2:p.Asp224Glu |