Linked Data
ClinVar Variation Id:
132122
dbSNP Id:
rs515726196
ExAC:
8:103231055 A / C
gnomAD v2:
8-103231055-A-C
gnomAD v3:
8-102218827-A-C
gnomAD v4:
8-102218827-A-C
PubMed:
PMID:24741716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102218827A>C , CM000670.2:g.102218827A>C | GRCh38 |
| NC_000008.10:g.103231055A>C , CM000670.1:g.103231055A>C | GRCh37 |
| NC_000008.9:g.103300231A>C | NCBI36 |
| NG_016617.1:g.25292T>G , LRG_788:g.25292T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.671T>G MANE Select | ENSP00000251810.3:p.Ile224Ser | |
| ENST00000251810.7:c.671T>G | ENSP00000251810.3:p.Ile224Ser | |
| ENST00000395912.6:c.515T>G | ENSP00000379248.2:p.Ile172Ser | |
| ENST00000519125.1:n.189T>G | ||
| ENST00000519317.5:c.49-4669T>G | ENSP00000430641.1:n.49-4669T>G | |
| ENST00000519962.5:c.49-10542T>G | ENSP00000429140.1:n.49-10542T>G | |
| ENST00000522368.5:c.840T>G | ||
| ENST00000522394.1:c.123-5938T>G | ENSP00000429578.1:n.123-5938T>G | |
| ENST00000621845.1:c.509T>G | ENSP00000484318.1:p.Ile170Ser | |
| NM_001172477.1:c.887T>G , LRG_788t1:c.887T>G | NP_001165948.1:p.Ile296Ser | |
| NM_001172478.1:c.515T>G | NP_001165949.1:p.Ile172Ser | |
| NM_015713.4:c.671T>G , LRG_788t2:c.671T>G | NP_056528.2:p.Ile224Ser | |
| NM_001172478.2:c.515T>G | NP_001165949.1:p.Ile172Ser | |
| NM_015713.5:c.671T>G MANE Select | NP_056528.2:p.Ile224Ser |