Linked Data
dbSNP Id:
rs769132385
ExAC:
3:186336411 C / A
gnomAD v2:
3-186336411-C-A
gnomAD v4:
3-186618622-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186618622C>A , CM000665.2:g.186618622C>A | GRCh38 |
| NC_000003.11:g.186336411C>A , CM000665.1:g.186336411C>A | GRCh37 |
| NC_000003.10:g.187819105C>A | NCBI36 |
| NG_011436.1:g.10562C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411641.7:c.660C>A MANE Select | ENSP00000393887.2:p.Asn220Lys | |
| ENST00000273784.5:c.663C>A | ENSP00000273784.5:p.Asn221Lys | |
| ENST00000411641.6:c.660C>A | ENSP00000393887.2:p.Asn220Lys | |
| NM_001622.2:c.660C>A | NP_001613.2:p.Asn220Lys | |
| NM_001354571.1:c.663C>A | NP_001341500.1:p.Asn221Lys | |
| NM_001354572.1:c.657C>A | NP_001341501.1:p.Asn219Lys | |
| NM_001354573.1:c.660C>A | NP_001341502.1:p.Asn220Lys | |
| NM_001622.3:c.660C>A | NP_001613.2:p.Asn220Lys | |
| NM_001622.4:c.660C>A MANE Select | NP_001613.2:p.Asn220Lys | |
| NM_001354571.2:c.663C>A | NP_001341500.1:p.Asn221Lys | |
| NM_001354572.2:c.657C>A | NP_001341501.1:p.Asn219Lys | |
| NM_001354573.2:c.660C>A | NP_001341502.1:p.Asn220Lys |