Linked Data
ClinVar Variation Id:
2084173
ClinVar RCV Id:
RCV002994572
MyVariant Identifiers:
chr7:g.65554132C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66089145C>T , CM000669.2:g.66089145C>T | GRCh38 |
| NC_000007.13:g.65554132C>T , CM000669.1:g.65554132C>T | GRCh37 |
| NC_000007.12:g.65191567C>T | NCBI36 |
| NG_009288.1:g.18357C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.888C>T MANE Select | ENSP00000307188.9:p.Ile296= | |
| ENST00000362000.10:c.693C>T | ENSP00000354710.6:p.Ile231= | |
| ENST00000380839.9:c.810C>T | ENSP00000370219.4:p.Ile270= | |
| ENST00000395331.4:c.888C>T | ENSP00000378740.3:p.Ile296= | |
| ENST00000395332.8:c.888C>T | ENSP00000378741.3:p.Ile296= | |
| ENST00000488343.2:c.57C>T | ENSP00000500864.1:p.Ile19= | |
| ENST00000671817.1:c.810C>T | ENSP00000500462.1:p.Ile270= | |
| ENST00000672498.1:c.*187C>T | ENSP00000500227.1:n.*187C>T | |
| ENST00000672586.1:n.1647C>T | ||
| ENST00000672676.1:n.1912C>T | ||
| ENST00000673149.1:n.700C>T | ||
| ENST00000673350.1:n.3005C>T | ||
| ENST00000673518.1:c.810C>T | ENSP00000499889.1:p.Ile270= | |
| ENST00000304874.13:c.888C>T | ENSP00000307188.9:p.Ile296= | |
| ENST00000362000.9:c.693C>T | ENSP00000354710.5:p.Ile231= | |
| ENST00000380839.8:c.810C>T | ENSP00000370219.4:p.Ile270= | |
| ENST00000395331.3:c.888C>T | ENSP00000378740.3:p.Ile296= | |
| ENST00000395332.7:c.888C>T | ENSP00000378741.3:p.Ile296= | |
| ENST00000450043.2:c.201C>T | ENSP00000396527.2:p.Ile67= | |
| ENST00000488343.1:n.57C>T | ||
| ENST00000493708.5:n.269C>T | ||
| NM_000048.3:c.888C>T | NP_000039.2:p.Ile296= | |
| NM_001024943.1:c.888C>T | NP_001020114.1:p.Ile296= | |
| NM_001024944.1:c.888C>T | NP_001020115.1:p.Ile296= | |
| NM_001024946.1:c.810C>T | NP_001020117.1:p.Ile270= | |
| NM_000048.4:c.888C>T MANE Select | NP_000039.2:p.Ile296= | |
| NM_001024943.2:c.888C>T | NP_001020114.1:p.Ile296= | |
| NM_001024944.2:c.888C>T | NP_001020115.1:p.Ile296= | |
| NM_001024946.2:c.810C>T | NP_001020117.1:p.Ile270= |