Linked Data
ClinVar Variation Id:
66026
dbSNP Id:
rs200913791
ExAC:
3:50379904 A / G
gnomAD v2:
3-50379904-A-G
gnomAD v3:
3-50342473-A-G
gnomAD v4:
3-50342473-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50342473A>G , CM000665.2:g.50342473A>G | GRCh38 |
| NC_000003.11:g.50379904A>G , CM000665.1:g.50379904A>G | GRCh37 |
| NC_000003.10:g.50354908A>G | NCBI36 |
| NG_023270.1:g.3464T>C | |
| NG_042828.1:g.8274T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000231749.8:c.797T>C MANE Select | ENSP00000231749.3:p.Leu266Pro | |
| ENST00000231749.7:c.797T>C | ENSP00000231749.3:p.Leu266Pro | |
| ENST00000360165.7:c.782T>C | ENSP00000353289.3:p.Leu261Pro | |
| ENST00000442887.1:c.668T>C | ENSP00000393687.1:p.Leu223Pro | |
| ENST00000475688.1:n.696T>C | ||
| NM_001308379.1:c.782T>C | NP_001295308.1:p.Leu261Pro | |
| NM_015896.2:c.797T>C | NP_056980.2:p.Leu266Pro | |
| NM_015896.3:c.797T>C | NP_056980.2:p.Leu266Pro | |
| XM_005265216.2:c.560T>C | XP_005265273.1:p.Leu187Pro | |
| XM_005265216.3:c.560T>C | XP_005265273.1:p.Leu187Pro | |
| NM_015896.4:c.797T>C MANE Select | NP_056980.2:p.Leu266Pro | |
| NM_001308379.2:c.782T>C | NP_001295308.1:p.Leu261Pro |