Linked Data
ClinVar Variation Id:
573168
ClinVar RCV Id:
RCV000694765
dbSNP Id:
rs786204865
COSMIC:
COSM5244
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952137A>C , CM000672.2:g.87952137A>C | GRCh38 |
| NC_000010.10:g.89711894A>C , CM000672.1:g.89711894A>C | GRCh37 |
| NC_000010.9:g.89701874A>C | NCBI36 |
| NG_007466.2:g.93699A>C , LRG_311:g.93699A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.512A>C | ENSP00000514759.2:p.Gln171Pro | |
| ENST00000710265.1:c.512A>C | ENSP00000518161.1:p.Gln171Pro | |
| ENST00000472832.3:c.512A>C | ENSP00000483066.2:p.Gln171Pro | |
| ENST00000688158.2:n.1247A>C | ||
| ENST00000688922.2:c.*342A>C | ENSP00000508742.2:n.*342A>C | |
| ENST00000700021.1:c.467A>C | ENSP00000514757.1:p.Gln156Pro | |
| ENST00000700022.1:c.493-5716A>C | ENSP00000514758.1:n.493-5716A>C | |
| ENST00000700023.1:n.1670A>C | ||
| ENST00000700024.1:n.1904A>C | ||
| ENST00000700025.1:n.1281A>C | ||
| ENST00000700029.1:c.346A>C | ||
| ENST00000706954.1:c.512A>C | ENSP00000516674.1:p.Gln171Pro | |
| ENST00000706955.1:c.*547A>C | ENSP00000516675.1:n.*547A>C | |
| ENST00000686459.1:c.*98A>C | ENSP00000508909.1:n.*98A>C | |
| ENST00000688158.1:c.*623A>C | ENSP00000509254.1:n.*623A>C | |
| ENST00000688308.1:c.512A>C | ENSP00000508752.1:p.Gln171Pro | |
| ENST00000688922.1:c.433A>C | ||
| ENST00000693560.1:c.1031A>C | ENSP00000509861.1:p.Gln344Pro | |
| ENST00000371953.8:c.512A>C MANE Select | ENSP00000361021.3:p.Gln171Pro | |
| ENST00000371953.7:c.512A>C | ENSP00000361021.3:p.Gln171Pro | |
| NM_000314.5:c.512A>C | NP_000305.3:p.Gln171Pro | |
| NM_000314.6:c.512A>C | NP_000305.3:p.Gln171Pro | |
| NM_001304717.2:c.1031A>C | NP_001291646.2:p.Gln344Pro | |
| NM_001304718.1:c.-80A>C | NP_001291647.1:n.-80A>C | |
| XM_006717926.2:c.467A>C | XP_006717989.1:p.Gln156Pro | |
| XM_011539981.1:c.512A>C | XP_011538283.1:p.Gln171Pro | |
| XM_011539982.1:c.416A>C | XP_011538284.1:p.Gln139Pro | |
| XR_945789.1:n.1383A>C | ||
| XR_945790.1:n.1500A>C | ||
| XR_945791.1:n.1205-5716A>C | ||
| NM_000314.7:c.512A>C | NP_000305.3:p.Gln171Pro | |
| NM_001304717.5:c.1031A>C | NP_001291646.4:p.Gln344Pro | |
| NM_001304718.2:c.-80A>C | NP_001291647.1:n.-80A>C | |
| NM_000314.8:c.512A>C MANE Select | NP_000305.3:p.Gln171Pro |