Linked Data
dbSNP Id:
rs756324755
ExAC:
3:140682007 A / G
gnomAD v2:
3-140682007-A-G
gnomAD v4:
3-140963165-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.140963165A>G , CM000665.2:g.140963165A>G | GRCh38 |
| NC_000003.11:g.140682007A>G , CM000665.1:g.140682007A>G | GRCh37 |
| NC_000003.10:g.142164697A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324194.12:c.323A>G MANE Select | ENSP00000320688.6:p.Lys108Arg | |
| ENST00000648615.1:c.323A>G | ENSP00000497436.1:p.Lys108Arg | |
| ENST00000324194.10:c.323A>G | ENSP00000320688.6:p.Lys108Arg | |
| ENST00000393015.8:n.525A>G | ||
| ENST00000446041.6:c.323A>G | ENSP00000401938.2:p.Lys108Arg | |
| ENST00000453248.6:c.245A>G | ENSP00000391521.2:p.Lys82Arg | |
| ENST00000502594.5:c.323A>G | ENSP00000423319.1:p.Lys108Arg | |
| ENST00000507429.5:c.323A>G | ENSP00000421470.1:p.Lys108Arg | |
| ENST00000512023.5:c.173A>G | ENSP00000424505.1:p.Lys58Arg | |
| ENST00000512506.5:c.173A>G | ENSP00000423711.1:p.Lys58Arg | |
| ENST00000513887.5:c.95A>G | ENSP00000422265.1:p.Lys32Arg | |
| ENST00000515813.1:n.432A>G | ||
| ENST00000631654.1:c.323A>G | ENSP00000487839.1:p.Lys108Arg | |
| NM_001104647.1:c.323A>G | NP_001098117.1:p.Lys108Arg | |
| NM_018155.2:c.323A>G | NP_060625.2:p.Lys108Arg | |
| XM_006713685.2:c.-784A>G | XP_006713748.1:n.-784A>G | |
| XM_011512951.1:c.419A>G | XP_011511253.1:p.Lys140Arg | |
| XM_011512952.1:c.-132A>G | XP_011511254.1:n.-132A>G | |
| XM_011512953.1:c.419A>G | XP_011511255.1:p.Lys140Arg | |
| XR_924150.1:n.612A>G | ||
| XR_924151.1:n.612A>G | ||
| XR_924152.1:n.612A>G | ||
| XR_924153.1:n.612A>G | ||
| XR_924154.1:n.612A>G | ||
| XR_924155.1:n.612A>G | ||
| XR_924156.1:n.612A>G | ||
| XR_924157.1:n.612A>G | ||
| NM_001104647.3:c.323A>G MANE Select | NP_001098117.1:p.Lys108Arg | |
| NM_018155.3:c.323A>G | NP_060625.2:p.Lys108Arg |