Linked Data
ClinVar Variation Id:
64511
ClinVar RCV Id:
RCV000054698
dbSNP Id:
rs387907520
gnomAD v4:
7-151075646-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151075646C>T , CM000669.2:g.151075646C>T | GRCh38 |
| NC_000007.13:g.150772733C>T , CM000669.1:g.150772733C>T | GRCh37 |
| NC_000007.12:g.150403666C>T | NCBI36 |
| NG_051947.1:g.22447C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413384.7:c.3342C>T MANE Select | ENSP00000405600.2:p.Pro1114= | |
| ENST00000677246.1:c.*478C>T | ENSP00000504447.1:n.*478C>T | |
| ENST00000310317.9:c.3096C>T | ENSP00000311402.5:p.Pro1032= | |
| ENST00000392826.6:c.3315C>T | ENSP00000376571.2:p.Pro1105= | |
| ENST00000413384.6:c.3342C>T | ENSP00000405600.2:p.Pro1114= | |
| ENST00000461735.1:c.3300C>T | ENSP00000419164.1:p.Pro1100= | |
| ENST00000485713.5:c.3342C>T | ENSP00000419412.1:p.Pro1114= | |
| NM_001199692.1:c.3342C>T | NP_001186621.1:p.Pro1114= | |
| NM_001199693.1:c.3315C>T | NP_001186622.1:p.Pro1105= | |
| NM_001199694.1:c.3300C>T | NP_001186623.1:p.Pro1100= | |
| NM_003040.3:c.3342C>T | NP_003031.3:p.Pro1114= | |
| XM_011516497.1:c.3342C>T | XP_011514799.1:p.Pro1114= | |
| NM_001199692.2:c.3342C>T | NP_001186621.1:p.Pro1114= | |
| NM_001199694.2:c.3300C>T | NP_001186623.1:p.Pro1100= | |
| NM_003040.4:c.3342C>T MANE Select | NP_003031.3:p.Pro1114= | |
| NM_001199692.3:c.3342C>T | NP_001186621.1:p.Pro1114= |