Linked Data
ClinVar Variation Id:
344088
dbSNP Id:
rs750175032
ExAC:
3:165491243 T / C
gnomAD v2:
3-165491243-T-C
gnomAD v3:
3-165773455-T-C
gnomAD v4:
3-165773455-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165773455T>C , CM000665.2:g.165773455T>C | GRCh38 |
| NC_000003.11:g.165491243T>C , CM000665.1:g.165491243T>C | GRCh37 |
| NC_000003.10:g.166973937T>C | NCBI36 |
| NG_009031.1:g.69011A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1736A>G MANE Select | ENSP00000264381.3:p.Asn579Ser | |
| ENST00000264381.7:c.1736A>G | ENSP00000264381.3:p.Asn579Ser | |
| ENST00000479451.5:c.326A>G | ENSP00000418325.1:p.Asn109Ser | |
| ENST00000482958.1:c.*242A>G | ENSP00000419804.1:n.*242A>G | |
| ENST00000497011.5:c.*126A>G | ENSP00000419505.1:n.*126A>G | |
| NM_000055.2:c.1736A>G | NP_000046.1:p.Asn579Ser | |
| XM_005247685.1:c.1859A>G | XP_005247742.1:p.Asn620Ser | |
| NM_000055.3:c.1736A>G | NP_000046.1:p.Asn579Ser | |
| NR_137635.1:n.378A>G | ||
| NR_137636.1:n.1982A>G | ||
| NM_000055.4:c.1736A>G MANE Select | NP_000046.1:p.Asn579Ser | |
| NR_137635.2:n.329A>G | ||
| NR_137636.2:n.1933A>G |