Linked Data
ClinVar Variation Id:
4661
ClinVar RCV Id:
RCV002453247
dbSNP Id:
rs121908163
ExAC:
1:10406001 C / T
gnomAD v2:
1-10406001-C-T
gnomAD v3:
1-10345943-C-T
gnomAD v4:
1-10345943-C-T
PubMed:
PMID:18334619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10345943C>T , CM000663.2:g.10345943C>T | GRCh38 |
| NC_000001.10:g.10406001C>T , CM000663.1:g.10406001C>T | GRCh37 |
| NC_000001.9:g.10328588C>T | NCBI36 |
| NG_008069.1:g.140238C>T , LRG_252:g.140238C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696502.1:c.3850C>T | ENSP00000512668.1:p.Pro1284Ser | |
| ENST00000696503.1:c.3712C>T | ENSP00000512669.1:p.Pro1238Ser | |
| ENST00000696504.1:c.3712C>T | ENSP00000512670.1:p.Pro1238Ser | |
| ENST00000676179.1:c.3787C>T MANE Select | ENSP00000502065.1:p.Pro1263Ser | |
| ENST00000263934.10:c.3649C>T | ENSP00000263934.6:p.Pro1217Ser | |
| ENST00000377081.5:c.3787C>T | ENSP00000366284.1:p.Pro1263Ser | |
| ENST00000377086.5:c.3787C>T | ENSP00000366290.1:p.Pro1263Ser | |
| ENST00000465635.5:n.242C>T | ||
| ENST00000483340.1:n.323C>T | ||
| ENST00000620295.2:c.3745C>T | ENSP00000478500.1:p.Pro1249Ser | |
| ENST00000622724.3:c.3709C>T | ENSP00000480063.1:p.Pro1237Ser | |
| NM_015074.3:c.3649C>T , LRG_252t1:c.3649C>T | NP_055889.2:p.Pro1217Ser | |
| NM_001365951.1:c.3787C>T | NP_001352880.1:p.Pro1263Ser | |
| NM_001365952.1:c.3787C>T | NP_001352881.1:p.Pro1263Ser | |
| NM_001365951.3:c.3787C>T MANE Select | NP_001352880.1:p.Pro1263Ser |