Linked Data
ClinVar Variation Id:
796860
ClinVar RCV Id:
RCV000980285
dbSNP Id:
rs747831550
ExAC:
7:65554268 C / T
gnomAD v2:
7-65554268-C-T
gnomAD v3:
7-66089281-C-T
gnomAD v4:
7-66089281-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66089281C>T , CM000669.2:g.66089281C>T | GRCh38 |
| NC_000007.13:g.65554268C>T , CM000669.1:g.65554268C>T | GRCh37 |
| NC_000007.12:g.65191703C>T | NCBI36 |
| NG_009288.1:g.18493C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.924C>T MANE Select | ENSP00000307188.9:p.Ala308= | |
| ENST00000362000.10:c.729C>T | ENSP00000354710.6:p.Ala243= | |
| ENST00000380839.9:c.846C>T | ENSP00000370219.4:p.Ala282= | |
| ENST00000395331.4:c.918+106C>T | ENSP00000378740.3:n.918+106C>T | |
| ENST00000395332.8:c.924C>T | ENSP00000378741.3:p.Ala308= | |
| ENST00000488343.2:c.93C>T | ENSP00000500864.1:p.Ala31= | |
| ENST00000671817.1:c.846C>T | ENSP00000500462.1:p.Ala282= | |
| ENST00000672498.1:c.*223C>T | ENSP00000500227.1:n.*223C>T | |
| ENST00000672586.1:n.1683C>T | ||
| ENST00000672676.1:n.1948C>T | ||
| ENST00000673149.1:n.736C>T | ||
| ENST00000673350.1:n.3041C>T | ||
| ENST00000673518.1:c.846C>T | ENSP00000499889.1:p.Ala282= | |
| ENST00000304874.13:c.924C>T | ENSP00000307188.9:p.Ala308= | |
| ENST00000380839.8:c.846C>T | ENSP00000370219.4:p.Ala282= | |
| ENST00000395331.3:c.918+106C>T | ENSP00000378740.3:n.918+106C>T | |
| ENST00000395332.7:c.924C>T | ENSP00000378741.3:p.Ala308= | |
| ENST00000450043.2:c.237C>T | ENSP00000396527.2:p.Ala79= | |
| ENST00000464970.1:n.43C>T | ||
| ENST00000488343.1:n.93C>T | ||
| ENST00000493708.5:n.405C>T | ||
| NM_000048.3:c.924C>T | NP_000039.2:p.Ala308= | |
| NM_001024943.1:c.924C>T | NP_001020114.1:p.Ala308= | |
| NM_001024944.1:c.918+106C>T | NP_001020115.1:n.918+106C>T | |
| NM_001024946.1:c.846C>T | NP_001020117.1:p.Ala282= | |
| NM_000048.4:c.924C>T MANE Select | NP_000039.2:p.Ala308= | |
| NM_001024943.2:c.924C>T | NP_001020114.1:p.Ala308= | |
| NM_001024944.2:c.918+106C>T | NP_001020115.1:n.918+106C>T | |
| NM_001024946.2:c.846C>T | NP_001020117.1:p.Ala282= |