Linked Data
ClinVar Variation Id:
305461
dbSNP Id:
rs775900681
ExAC:
11:66287132 C / T
gnomAD v2:
11-66287132-C-T
gnomAD v3:
11-66519661-C-T
gnomAD v4:
11-66519661-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66519661C>T , CM000673.2:g.66519661C>T | GRCh38 |
| NC_000011.9:g.66287132C>T , CM000673.1:g.66287132C>T | GRCh37 |
| NC_000011.8:g.66043708C>T | NCBI36 |
| NG_009093.1:g.14014C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.636C>T MANE Select | ENSP00000317469.7:p.Asp212= | |
| ENST00000318312.11:c.636C>T | ENSP00000317469.7:p.Asp212= | |
| ENST00000393994.4:c.636C>T | ENSP00000377563.2:p.Asp212= | |
| ENST00000419755.3:c.747C>T | ENSP00000398526.3:p.Asp249= | |
| ENST00000455748.6:c.433-1609C>T | ENSP00000405764.2:n.433-1609C>T | |
| ENST00000524458.5:c.*425C>T | ENSP00000436195.1:n.*425C>T | |
| ENST00000524907.5:n.732C>T | ||
| ENST00000525809.5:c.363C>T | ENSP00000431187.1:p.Asp121= | |
| ENST00000526035.5:c.*339C>T | ENSP00000434197.1:n.*339C>T | |
| ENST00000526760.5:c.*343C>T | ENSP00000432140.1:n.*343C>T | |
| ENST00000527251.5:c.*343C>T | ENSP00000434360.1:n.*343C>T | |
| ENST00000528543.1:n.158C>T | ||
| ENST00000529766.5:n.643C>T | ||
| ENST00000529953.5:n.288C>T | ||
| ENST00000529955.5:n.607C>T | ||
| ENST00000532908.5:c.*296C>T | ENSP00000431866.1:n.*296C>T | |
| ENST00000533430.5:n.414C>T | ||
| ENST00000533557.5:c.*296C>T | ENSP00000434619.1:n.*296C>T | |
| ENST00000533644.5:c.*94C>T | ENSP00000436073.1:n.*94C>T | |
| ENST00000630659.2:c.*343C>T | ENSP00000486455.1:n.*343C>T | |
| NM_024649.4:c.636C>T | NP_078925.3:p.Asp212= | |
| NM_024649.5:c.636C>T MANE Select | NP_078925.3:p.Asp212= |