Linked Data
ClinVar Variation Id:
189415
dbSNP Id:
rs786204868
ERepo:
CA000535/MONDO:0017623/003
PubMed:
PMID:26933808
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952235C>G , CM000672.2:g.87952235C>G | GRCh38 |
| NC_000010.10:g.89711992C>G , CM000672.1:g.89711992C>G | GRCh37 |
| NC_000010.9:g.89701972C>G | NCBI36 |
| NG_007466.2:g.93797C>G , LRG_311:g.93797C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.610C>G | ENSP00000514759.2:p.Pro204Ala | |
| ENST00000710265.1:c.610C>G | ENSP00000518161.1:p.Pro204Ala | |
| ENST00000472832.3:c.610C>G | ENSP00000483066.2:p.Pro204Ala | |
| ENST00000688158.2:n.1345C>G | ||
| ENST00000688922.2:c.*440C>G | ENSP00000508742.2:n.*440C>G | |
| ENST00000700021.1:c.565C>G | ENSP00000514757.1:p.Pro189Ala | |
| ENST00000700022.1:c.493-5618C>G | ENSP00000514758.1:n.493-5618C>G | |
| ENST00000700023.1:n.1768C>G | ||
| ENST00000700024.1:n.2002C>G | ||
| ENST00000700025.1:n.1379C>G | ||
| ENST00000700029.1:c.444C>G | ||
| ENST00000706954.1:c.610C>G | ENSP00000516674.1:p.Pro204Ala | |
| ENST00000706955.1:c.*645C>G | ENSP00000516675.1:n.*645C>G | |
| ENST00000686459.1:c.*196C>G | ENSP00000508909.1:n.*196C>G | |
| ENST00000688158.1:c.*721C>G | ENSP00000509254.1:n.*721C>G | |
| ENST00000688308.1:c.610C>G | ENSP00000508752.1:p.Pro204Ala | |
| ENST00000688922.1:c.531C>G | ||
| ENST00000693560.1:c.1129C>G | ENSP00000509861.1:p.Pro377Ala | |
| ENST00000371953.8:c.610C>G MANE Select | ENSP00000361021.3:p.Pro204Ala | |
| ENST00000371953.7:c.610C>G | ENSP00000361021.3:p.Pro204Ala | |
| ENST00000472832.2:c.37C>G | ENSP00000483066.1:p.Pro13Ala | |
| NM_000314.5:c.610C>G | NP_000305.3:p.Pro204Ala | |
| NM_000314.6:c.610C>G | NP_000305.3:p.Pro204Ala | |
| NM_001304717.2:c.1129C>G | NP_001291646.2:p.Pro377Ala | |
| NM_001304718.1:c.19C>G | NP_001291647.1:p.Pro7Ala | |
| XM_006717926.2:c.565C>G | XP_006717989.1:p.Pro189Ala | |
| XM_011539981.1:c.610C>G | XP_011538283.1:p.Pro204Ala | |
| XM_011539982.1:c.514C>G | XP_011538284.1:p.Pro172Ala | |
| XR_945791.1:n.1205-5618C>G | ||
| NM_000314.7:c.610C>G | NP_000305.3:p.Pro204Ala | |
| NM_001304717.5:c.1129C>G | NP_001291646.4:p.Pro377Ala | |
| NM_001304718.2:c.19C>G | NP_001291647.1:p.Pro7Ala | |
| NM_000314.8:c.610C>G MANE Select | NP_000305.3:p.Pro204Ala |