Linked Data
ClinVar Variation Id:
215094
dbSNP Id:
rs863224193
gnomAD v2:
8-103231064-T-C
gnomAD v4:
8-102218836-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102218836T>C , CM000670.2:g.102218836T>C | GRCh38 |
| NC_000008.10:g.103231064T>C , CM000670.1:g.103231064T>C | GRCh37 |
| NC_000008.9:g.103300240T>C | NCBI36 |
| NG_016617.1:g.25283A>G , LRG_788:g.25283A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.662A>G MANE Select | ENSP00000251810.3:p.Asn221Ser | |
| ENST00000251810.7:c.662A>G | ENSP00000251810.3:p.Asn221Ser | |
| ENST00000395912.6:c.506A>G | ENSP00000379248.2:p.Asn169Ser | |
| ENST00000519125.1:n.180A>G | ||
| ENST00000519317.5:c.49-4678A>G | ENSP00000430641.1:n.49-4678A>G | |
| ENST00000519962.5:c.49-10551A>G | ENSP00000429140.1:n.49-10551A>G | |
| ENST00000522368.5:c.831A>G | ||
| ENST00000522394.1:c.123-5947A>G | ENSP00000429578.1:n.123-5947A>G | |
| ENST00000621845.1:c.500A>G | ENSP00000484318.1:p.Asn167Ser | |
| NM_001172477.1:c.878A>G , LRG_788t1:c.878A>G | NP_001165948.1:p.Asn293Ser | |
| NM_001172478.1:c.506A>G | NP_001165949.1:p.Asn169Ser | |
| NM_015713.4:c.662A>G , LRG_788t2:c.662A>G | NP_056528.2:p.Asn221Ser | |
| NM_001172478.2:c.506A>G | NP_001165949.1:p.Asn169Ser | |
| NM_015713.5:c.662A>G MANE Select | NP_056528.2:p.Asn221Ser |