Linked Data
ClinVar Variation Id:
873
dbSNP Id:
rs121918186
ExAC:
22:45691554 C / T
gnomAD v2:
22-45691554-C-T
gnomAD v3:
22-45295673-C-T
gnomAD v4:
22-45295673-C-T
PubMed:
PMID:15888565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45295673C>T , CM000684.2:g.45295673C>T | GRCh38 |
| NC_000022.10:g.45691554C>T , CM000684.1:g.45691554C>T | GRCh37 |
| NC_000022.9:g.44070218C>T | NCBI36 |
| NG_016203.1:g.15687C>T | |
| NG_016203.2:g.15687C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.818C>T MANE Select | ENSP00000216211.4:p.Pro273Leu | |
| ENST00000216211.8:c.818C>T | ENSP00000216211.4:p.Pro273Leu | |
| ENST00000396082.2:c.455C>T | ENSP00000379391.2:p.Pro152Leu | |
| NM_001167574.1:c.455C>T | NP_001161046.1:p.Pro152Leu | |
| NM_006953.3:c.818C>T | NP_008884.1:p.Pro273Leu | |
| XM_011530364.1:c.824C>T | XP_011528666.1:p.Pro275Leu | |
| XM_011530365.1:c.461C>T | XP_011528667.1:p.Pro154Leu | |
| NM_006953.4:c.818C>T MANE Select | NP_008884.1:p.Pro273Leu | |
| NM_001167574.2:c.455C>T | NP_001161046.1:p.Pro152Leu |