Linked Data
ClinVar Variation Id:
639572
ClinVar RCV Id:
RCV000792394
dbSNP Id:
rs1589666011
gnomAD v4:
10-87961029-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961029A>C , CM000672.2:g.87961029A>C | GRCh38 |
| NC_000010.10:g.89720786A>C , CM000672.1:g.89720786A>C | GRCh37 |
| NC_000010.9:g.89710766A>C | NCBI36 |
| NG_007466.2:g.102591A>C , LRG_311:g.102591A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1030A>C | ENSP00000514759.2:p.Lys344Gln | |
| ENST00000710265.1:c.937A>C | ENSP00000518161.1:p.Lys313Gln | |
| ENST00000472832.3:c.937A>C | ENSP00000483066.2:p.Lys313Gln | |
| ENST00000688158.2:n.1672A>C | ||
| ENST00000688922.2:c.*767A>C | ENSP00000508742.2:n.*767A>C | |
| ENST00000700021.1:c.892A>C | ENSP00000514757.1:p.Lys298Gln | |
| ENST00000700022.1:c.*276A>C | ENSP00000514758.1:n.*276A>C | |
| ENST00000700023.1:n.2095A>C | ||
| ENST00000700024.1:n.2329A>C | ||
| ENST00000700025.1:n.1706A>C | ||
| ENST00000700026.1:n.574A>C | ||
| ENST00000706954.1:c.937A>C | ENSP00000516674.1:p.Lys313Gln | |
| ENST00000706955.1:c.*972A>C | ENSP00000516675.1:n.*972A>C | |
| ENST00000686459.1:c.*523A>C | ENSP00000508909.1:n.*523A>C | |
| ENST00000688158.1:c.*1048A>C | ENSP00000509254.1:n.*1048A>C | |
| ENST00000688308.1:c.937A>C | ENSP00000508752.1:p.Lys313Gln | |
| ENST00000688922.1:c.858A>C | ||
| ENST00000693560.1:c.1456A>C | ENSP00000509861.1:p.Lys486Gln | |
| ENST00000371953.8:c.937A>C MANE Select | ENSP00000361021.3:p.Lys313Gln | |
| ENST00000371953.7:c.937A>C | ENSP00000361021.3:p.Lys313Gln | |
| ENST00000472832.2:c.364A>C | ENSP00000483066.1:p.Lys122Gln | |
| NM_000314.5:c.937A>C | NP_000305.3:p.Lys313Gln | |
| NM_000314.6:c.937A>C | NP_000305.3:p.Lys313Gln | |
| NM_001304717.2:c.1456A>C | NP_001291646.2:p.Lys486Gln | |
| NM_001304718.1:c.346A>C | NP_001291647.1:p.Lys116Gln | |
| XM_006717926.2:c.892A>C | XP_006717989.1:p.Lys298Gln | |
| XM_011539981.1:c.937A>C | XP_011538283.1:p.Lys313Gln | |
| XM_011539982.1:c.841A>C | XP_011538284.1:p.Lys281Gln | |
| XR_945791.1:n.1507A>C | ||
| NM_000314.7:c.937A>C | NP_000305.3:p.Lys313Gln | |
| NM_001304717.5:c.1456A>C | NP_001291646.4:p.Lys486Gln | |
| NM_001304718.2:c.346A>C | NP_001291647.1:p.Lys116Gln | |
| NM_000314.8:c.937A>C MANE Select | NP_000305.3:p.Lys313Gln |