Linked Data
ClinVar Variation Id:
7517
dbSNP Id:
rs121434455
gnomAD v3:
7-92504812-A-G
gnomAD v4:
7-92504812-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504812A>G , CM000669.2:g.92504812A>G | GRCh38 |
| NC_000007.13:g.92134126A>G , CM000669.1:g.92134126A>G | GRCh37 |
| NC_000007.12:g.91972062A>G | NCBI36 |
| NG_008341.1:g.28720T>C | |
| NG_008341.2:g.28720T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1991T>C MANE Select | ENSP00000248633.4:p.Leu664Pro | |
| ENST00000248633.8:c.1991T>C | ENSP00000248633.4:p.Leu664Pro | |
| ENST00000428214.5:c.1900+1436T>C | ENSP00000394413.1:n.1900+1436T>C | |
| ENST00000438045.5:c.1025T>C | ENSP00000410438.1:p.Leu342Pro | |
| ENST00000484913.5:n.2030T>C | ||
| ENST00000496420.5:n.1667T>C | ||
| NM_000466.2:c.1991T>C | NP_000457.1:p.Leu664Pro | |
| NM_001282677.1:c.1900+1436T>C | NP_001269606.1:n.1900+1436T>C | |
| NM_001282678.1:c.1367T>C | NP_001269607.1:p.Leu456Pro | |
| XM_005250433.3:c.242T>C | XP_005250490.1:p.Leu81Pro | |
| XR_242246.3:n.2087T>C | ||
| XM_017012319.2:c.242T>C | XP_016867808.1:p.Leu81Pro | |
| XR_001744808.2:n.1018T>C | ||
| XR_242246.5:n.2038T>C | ||
| NM_000466.3:c.1991T>C MANE Select | NP_000457.1:p.Leu664Pro | |
| NM_001282677.2:c.1900+1436T>C | NP_001269606.1:n.1900+1436T>C | |
| NM_001282678.2:c.1367T>C | NP_001269607.1:p.Leu456Pro |