Linked Data
ClinVar Variation Id:
371141
dbSNP Id:
rs764245266
ExAC:
11:66278482 A / C
gnomAD v2:
11-66278482-A-C
gnomAD v4:
11-66511011-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66511011A>C , CM000673.2:g.66511011A>C | GRCh38 |
| NC_000011.9:g.66278482A>C , CM000673.1:g.66278482A>C | GRCh37 |
| NC_000011.8:g.66035058A>C | NCBI36 |
| NG_009093.1:g.5364A>C | |
| NG_032068.1:g.35603A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.48-2A>C MANE Select | ENSP00000317469.7:n.48-2A>C | |
| ENST00000318312.11:c.48-2A>C | ENSP00000317469.7:n.48-2A>C | |
| ENST00000393994.4:c.48-2A>C | ENSP00000377563.2:n.48-2A>C | |
| ENST00000419755.3:c.159-2A>C | ENSP00000398526.3:n.159-2A>C | |
| ENST00000455748.6:c.48-2A>C | ENSP00000405764.2:n.48-2A>C | |
| ENST00000524907.5:n.38-2A>C | ||
| ENST00000525809.5:c.48-2A>C | ENSP00000431187.1:n.48-2A>C | |
| ENST00000526035.5:c.48-2A>C | ENSP00000434197.1:n.48-2A>C | |
| ENST00000526760.5:c.48-2A>C | ENSP00000432140.1:n.48-2A>C | |
| ENST00000526815.5:c.-45A>C | ENSP00000436860.1:n.-45A>C | |
| ENST00000527251.5:c.-45A>C | ENSP00000434360.1:n.-45A>C | |
| ENST00000529766.5:n.55-2A>C | ||
| ENST00000529955.5:n.66-2A>C | ||
| ENST00000532908.5:c.48-2A>C | ENSP00000431866.1:n.48-2A>C | |
| ENST00000533557.5:c.48-2A>C | ENSP00000434619.1:n.48-2A>C | |
| ENST00000533644.5:c.48-2A>C | ENSP00000436073.1:n.48-2A>C | |
| ENST00000534730.5:n.60-2A>C | ||
| ENST00000630659.2:c.48-2A>C | ENSP00000486455.1:n.48-2A>C | |
| NM_024649.4:c.48-2A>C | NP_078925.3:n.48-2A>C | |
| NM_024649.5:c.48-2A>C MANE Select | NP_078925.3:n.48-2A>C |