Linked Data
ClinVar Variation Id:
1546717
ClinVar RCV Id:
RCV002174993
dbSNP Id:
rs760378137
MyVariant Identifiers:
chr7:g.65554099C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66089112C>G , CM000669.2:g.66089112C>G | GRCh38 |
| NC_000007.13:g.65554099C>G , CM000669.1:g.65554099C>G | GRCh37 |
| NC_000007.12:g.65191534C>G | NCBI36 |
| NG_009288.1:g.18324C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.855C>G MANE Select | ENSP00000307188.9:p.Pro285= | |
| ENST00000362000.10:c.660C>G | ENSP00000354710.6:p.Pro220= | |
| ENST00000380839.9:c.777C>G | ENSP00000370219.4:p.Pro259= | |
| ENST00000395331.4:c.855C>G | ENSP00000378740.3:p.Pro285= | |
| ENST00000395332.8:c.855C>G | ENSP00000378741.3:p.Pro285= | |
| ENST00000488343.2:c.24C>G | ENSP00000500864.1:p.Pro8= | |
| ENST00000671817.1:c.777C>G | ENSP00000500462.1:p.Pro259= | |
| ENST00000672498.1:c.*154C>G | ENSP00000500227.1:n.*154C>G | |
| ENST00000672586.1:n.1614C>G | ||
| ENST00000672676.1:n.1879C>G | ||
| ENST00000673149.1:n.667C>G | ||
| ENST00000673350.1:n.2972C>G | ||
| ENST00000673518.1:c.777C>G | ENSP00000499889.1:p.Pro259= | |
| ENST00000304874.13:c.855C>G | ENSP00000307188.9:p.Pro285= | |
| ENST00000362000.9:c.660C>G | ENSP00000354710.5:p.Pro220= | |
| ENST00000380839.8:c.777C>G | ENSP00000370219.4:p.Pro259= | |
| ENST00000395331.3:c.855C>G | ENSP00000378740.3:p.Pro285= | |
| ENST00000395332.7:c.855C>G | ENSP00000378741.3:p.Pro285= | |
| ENST00000450043.2:c.168C>G | ENSP00000396527.2:p.Pro56= | |
| ENST00000488343.1:n.24C>G | ||
| ENST00000493708.5:n.236C>G | ||
| NM_000048.3:c.855C>G | NP_000039.2:p.Pro285= | |
| NM_001024943.1:c.855C>G | NP_001020114.1:p.Pro285= | |
| NM_001024944.1:c.855C>G | NP_001020115.1:p.Pro285= | |
| NM_001024946.1:c.777C>G | NP_001020117.1:p.Pro259= | |
| NM_000048.4:c.855C>G MANE Select | NP_000039.2:p.Pro285= | |
| NM_001024943.2:c.855C>G | NP_001020114.1:p.Pro285= | |
| NM_001024944.2:c.855C>G | NP_001020115.1:p.Pro285= | |
| NM_001024946.2:c.777C>G | NP_001020117.1:p.Pro259= |