Linked Data
ClinVar Variation Id:
39856
ClinVar RCV Id:
RCV000033083
dbSNP Id:
rs397514623
gnomAD v4:
18-2707567-C-T
PubMed:
PMID:23143600
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2707567C>T , CM000680.2:g.2707567C>T | GRCh38 |
| NC_000018.9:g.2707565C>T , CM000680.1:g.2707565C>T | GRCh37 |
| NC_000018.8:g.2697565C>T | NCBI36 |
| NG_031972.1:g.56680C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688342.1:c.2068C>T | ENSP00000508422.1:p.Pro690Ser | |
| ENST00000693213.1:n.1346C>T | ||
| ENST00000320876.11:c.2068C>T MANE Select | ENSP00000326603.7:p.Pro690Ser | |
| ENST00000320876.10:c.2068C>T | ENSP00000326603.6:p.Pro690Ser | |
| ENST00000577880.5:c.481C>T | ENSP00000463049.1:p.Pro161Ser | |
| ENST00000581711.1:n.124C>T | ||
| ENST00000584897.5:c.33C>T | ||
| NM_015295.2:c.2068C>T | NP_056110.2:p.Pro690Ser | |
| XM_011525642.1:c.2068C>T | XP_011523944.1:p.Pro690Ser | |
| XM_011525643.1:c.2068C>T | XP_011523945.1:p.Pro690Ser | |
| XM_011525644.1:c.1684C>T | XP_011523946.1:p.Pro562Ser | |
| XM_011525645.1:c.1504C>T | XP_011523947.1:p.Pro502Ser | |
| XM_011525646.1:c.2068C>T | XP_011523948.1:p.Pro690Ser | |
| XM_011525647.1:c.2068C>T | XP_011523949.1:p.Pro690Ser | |
| XR_430039.1:n.2257C>T | ||
| XR_935054.1:n.2257C>T | ||
| XR_935055.1:n.2257C>T | ||
| XM_011525643.2:c.2068C>T | XP_011523945.1:p.Pro690Ser | |
| XM_017025684.1:c.1504C>T | XP_016881173.1:p.Pro502Ser | |
| XR_001753172.1:n.2257C>T | ||
| XR_001753173.1:n.2257C>T | ||
| XR_001753174.1:n.2257C>T | ||
| XR_001753175.1:n.2257C>T | ||
| XR_001753176.1:n.2257C>T | ||
| XR_001753177.1:n.2257C>T | ||
| XR_001753178.1:n.2257C>T | ||
| XR_001753179.1:n.2257C>T | ||
| XR_935055.2:n.2257C>T | ||
| NM_015295.3:c.2068C>T MANE Select | NP_056110.2:p.Pro690Ser |