Linked Data
ClinVar Variation Id:
1507065
ClinVar RCV Id:
RCV002038266
dbSNP Id:
rs1425186214
gnomAD v2:
11-102826029-T-C
gnomAD v4:
11-102955300-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102955300T>C , CM000673.2:g.102955300T>C | GRCh38 |
| NC_000011.9:g.102826029T>C , CM000673.1:g.102826029T>C | GRCh37 |
| NC_000011.8:g.102331239T>C | NCBI36 |
| NG_021404.1:g.5435A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260302.8:c.314A>G MANE Select | ENSP00000260302.3:p.Asn105Ser | |
| ENST00000260302.7:c.314A>G | ENSP00000260302.3:p.Asn105Ser | |
| ENST00000340273.4:c.314A>G | ENSP00000339672.4:p.Asn105Ser | |
| ENST00000615555.4:c.314A>G | ENSP00000482883.1:p.Asn105Ser | |
| NM_002427.3:c.314A>G | NP_002418.1:p.Asn105Ser | |
| NM_002427.4:c.314A>G MANE Select | NP_002418.1:p.Asn105Ser |