Linked Data
ClinVar Variation Id:
224745
dbSNP Id:
rs869312179
gnomAD v2:
1-216348747-C-A
gnomAD v4:
1-216175405-C-A
PubMed:
PMID:26872967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216175405C>A , CM000663.2:g.216175405C>A | GRCh38 |
| NC_000001.10:g.216348747C>A , CM000663.1:g.216348747C>A | GRCh37 |
| NC_000001.9:g.214415370C>A | NCBI36 |
| NG_009497.1:g.252992G>T | |
| NG_009497.2:g.253044G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.4474G>T MANE Select | ENSP00000305941.3:p.Glu1492Ter | |
| ENST00000674083.1:c.4474G>T | ENSP00000501296.1:p.Glu1492Ter | |
| ENST00000307340.7:c.4474G>T | ENSP00000305941.3:p.Glu1492Ter | |
| ENST00000366942.3:c.4474G>T | ENSP00000355909.3:p.Glu1492Ter | |
| NM_007123.5:c.4474G>T | NP_009054.5:p.Glu1492Ter | |
| NM_206933.2:c.4474G>T | NP_996816.2:p.Glu1492Ter | |
| NM_206933.3:c.4474G>T | NP_996816.2:p.Glu1492Ter | |
| NM_007123.6:c.4474G>T | NP_009054.6:p.Glu1492Ter | |
| NM_206933.4:c.4474G>T MANE Select | NP_996816.3:p.Glu1492Ter |