Linked Data
ClinVar Variation Id:
427183
dbSNP Id:
rs748167994
ExAC:
8:126052103 T / C
gnomAD v2:
8-126052103-T-C
gnomAD v3:
8-125039861-T-C
gnomAD v4:
8-125039861-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125039861T>C , CM000670.2:g.125039861T>C | GRCh38 |
| NC_000008.10:g.126052103T>C , CM000670.1:g.126052103T>C | GRCh37 |
| NC_000008.9:g.126121285T>C | NCBI36 |
| NG_012636.1:g.56959A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318410.12:c.2888A>G MANE Select | ENSP00000318016.7:p.Asn963Ser | |
| ENST00000318410.11:c.2888A>G | ENSP00000318016.7:p.Asn963Ser | |
| ENST00000517845.5:c.2444A>G | ENSP00000429676.1:p.Asn815Ser | |
| NM_014846.3:c.2888A>G | NP_055661.3:p.Asn963Ser | |
| XM_005251120.2:c.2444A>G | XP_005251177.1:p.Asn815Ser | |
| XM_011517409.1:c.2888A>G | XP_011515711.1:p.Asn963Ser | |
| XM_011517410.1:c.2888A>G | XP_011515712.1:p.Asn963Ser | |
| NM_001330609.1:c.2444A>G | NP_001317538.1:p.Asn815Ser | |
| XM_017014113.2:c.2888A>G | XP_016869602.1:p.Asn963Ser | |
| NM_014846.4:c.2888A>G MANE Select | NP_055661.3:p.Asn963Ser | |
| NM_001330609.2:c.2444A>G | NP_001317538.1:p.Asn815Ser |