Linked Data
ClinVar Variation Id:
2067092
dbSNP Id:
rs148021370
ExAC:
8:145151545 G / A
gnomAD v2:
8-145151545-G-A
gnomAD v3:
8-144096642-G-A
gnomAD v4:
8-144096642-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144096642G>A , CM000670.2:g.144096642G>A | GRCh38 |
| NC_000008.10:g.145151545G>A , CM000670.1:g.145151545G>A | GRCh37 |
| NC_000008.9:g.145223533G>A | NCBI36 |
| NG_033872.1:g.6608G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318911.5:c.670G>A MANE Select | ENSP00000317159.4:p.Gly224Arg | |
| ENST00000318911.4:c.670G>A | ENSP00000317159.4:p.Gly224Arg | |
| ENST00000525122.1:n.298G>A | ||
| ENST00000533444.1:n.1335G>A | ||
| NM_001916.4:c.670G>A | NP_001907.2:p.Gly224Arg | |
| XM_017013102.1:c.493G>A | XP_016868591.1:p.Gly165Arg | |
| XM_024447072.1:c.493G>A | XP_024302840.1:p.Gly165Arg | |
| NM_001916.5:c.670G>A MANE Select | NP_001907.3:p.Gly224Arg |