Linked Data
ClinVar Variation Id:
1984558
ClinVar RCV Id:
RCV002800293
dbSNP Id:
rs781144584
ExAC:
11:66283164 G / T
gnomAD v2:
11-66283164-G-T
gnomAD v3:
11-66515693-G-T
gnomAD v4:
11-66515693-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66515693G>T , CM000673.2:g.66515693G>T | GRCh38 |
| NC_000011.9:g.66283164G>T , CM000673.1:g.66283164G>T | GRCh37 |
| NC_000011.8:g.66039740G>T | NCBI36 |
| NG_009093.1:g.10046G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318312.12:c.480G>T MANE Select | ENSP00000317469.7:p.Arg160= | |
| ENST00000318312.11:c.480G>T | ENSP00000317469.7:p.Arg160= | |
| ENST00000393994.4:c.480G>T | ENSP00000377563.2:p.Arg160= | |
| ENST00000419755.3:c.591G>T | ENSP00000398526.3:p.Arg197= | |
| ENST00000455748.6:c.432+1015G>T | ENSP00000405764.2:n.432+1015G>T | |
| ENST00000524458.5:c.*140G>T | ENSP00000436195.1:n.*140G>T | |
| ENST00000524907.5:n.576G>T | ||
| ENST00000525809.5:c.207G>T | ENSP00000431187.1:p.Arg69= | |
| ENST00000526035.5:c.*187G>T | ENSP00000434197.1:n.*187G>T | |
| ENST00000526760.5:c.*187G>T | ENSP00000432140.1:n.*187G>T | |
| ENST00000527251.5:c.*187G>T | ENSP00000434360.1:n.*187G>T | |
| ENST00000528543.1:n.2G>T | ||
| ENST00000529766.5:n.487G>T | ||
| ENST00000529953.5:n.132G>T | ||
| ENST00000529955.5:n.451G>T | ||
| ENST00000532908.5:c.*140G>T | ENSP00000431866.1:n.*140G>T | |
| ENST00000533430.5:n.258G>T | ||
| ENST00000533557.5:c.*140G>T | ENSP00000434619.1:n.*140G>T | |
| ENST00000533644.5:c.433G>T | ENSP00000436073.1:p.Gly145Ter | |
| ENST00000534730.5:n.492G>T | ||
| ENST00000630659.2:c.*187G>T | ENSP00000486455.1:n.*187G>T | |
| NM_024649.4:c.480G>T | NP_078925.3:p.Arg160= | |
| NM_024649.5:c.480G>T MANE Select | NP_078925.3:p.Arg160= |