Linked Data
ClinVar Variation Id:
305285
ClinVar RCV Id:
RCV000290610
dbSNP Id:
rs886048463
gnomAD v2:
11-64527273-T-C
gnomAD v3:
11-64759801-T-C
gnomAD v4:
11-64759801-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64759801T>C , CM000673.2:g.64759801T>C | GRCh38 |
| NC_000011.9:g.64527273T>C , CM000673.1:g.64527273T>C | GRCh37 |
| NC_000011.8:g.64283849T>C | NCBI36 |
| NG_013018.1:g.5915A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.98A>G MANE Select | ENSP00000164139.3:p.Asn33Ser | |
| ENST00000164139.3:c.98A>G | ENSP00000164139.3:p.Asn33Ser | |
| ENST00000377432.7:c.98A>G | ENSP00000366650.3:p.Asn33Ser | |
| NM_001164716.1:c.98A>G | NP_001158188.1:p.Asn33Ser | |
| NM_005609.2:c.98A>G | NP_005600.1:p.Asn33Ser | |
| NM_005609.3:c.98A>G | NP_005600.1:p.Asn33Ser | |
| NM_005609.4:c.98A>G MANE Select | NP_005600.1:p.Asn33Ser |