Linked Data
ClinVar Variation Id:
2398858
ClinVar RCV Id:
RCV004233607
dbSNP Id:
rs1391060196
gnomAD v2:
5-10256225-C-T
gnomAD v4:
5-10256113-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10256113C>T , CM000667.2:g.10256113C>T | GRCh38 |
| NC_000005.9:g.10256225C>T , CM000667.1:g.10256225C>T | GRCh37 |
| NC_000005.8:g.10309225C>T | NCBI36 |
| NG_012160.1:g.10944C>T , LRG_361:g.10944C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280326.9:c.490C>T MANE Select | ENSP00000280326.4:p.Pro164Ser | |
| ENST00000280326.8:c.490C>T | ENSP00000280326.4:p.Pro164Ser | |
| ENST00000423695.6:n.128-1998C>T | ||
| ENST00000503026.5:c.427C>T | ENSP00000423318.1:p.Pro143Ser | |
| ENST00000503454.5:c.379C>T | ||
| ENST00000506600.1:c.211C>T | ENSP00000423052.1:p.Pro71Ser | |
| ENST00000511700.1:c.405C>T | ENSP00000423087.1:n.405C>T | |
| ENST00000512975.5:c.106-1998C>T | ENSP00000425751.1:n.106-1998C>T | |
| ENST00000515390.5:c.325C>T | ENSP00000426923.1:p.Pro109Ser | |
| ENST00000515676.5:c.376C>T | ENSP00000427297.1:p.Pro126Ser | |
| ENST00000625723.1:c.106-1998C>T | ENSP00000487128.1:n.106-1998C>T | |
| NM_001306153.1:c.427C>T | NP_001293082.1:p.Pro143Ser | |
| NM_001306154.1:c.325C>T | NP_001293083.1:p.Pro109Ser | |
| NM_001306155.1:c.211C>T | NP_001293084.1:p.Pro71Ser | |
| NM_001306156.1:c.376C>T | NP_001293085.1:p.Pro126Ser | |
| NM_012073.3:c.490C>T , LRG_361t1:c.490C>T | NP_036205.1:p.Pro164Ser | |
| NM_012073.4:c.490C>T | NP_036205.1:p.Pro164Ser | |
| NM_012073.5:c.490C>T MANE Select | NP_036205.1:p.Pro164Ser | |
| NM_001306154.2:c.325C>T | NP_001293083.1:p.Pro109Ser | |
| NM_001306155.2:c.211C>T | NP_001293084.1:p.Pro71Ser | |
| NM_001306156.2:c.376C>T | NP_001293085.1:p.Pro126Ser |