Linked Data
ClinVar Variation Id:
371003
ClinVar RCV Id:
RCV000409654
dbSNP Id:
rs1057516933
PubMed:
PMID:21052717
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66515692G>C , CM000673.2:g.66515692G>C | GRCh38 |
| NC_000011.9:g.66283163G>C , CM000673.1:g.66283163G>C | GRCh37 |
| NC_000011.8:g.66039739G>C | NCBI36 |
| NG_009093.1:g.10045G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.480-1G>C MANE Select | ENSP00000317469.7:n.480-1G>C | |
| ENST00000318312.11:c.480-1G>C | ENSP00000317469.7:n.480-1G>C | |
| ENST00000393994.4:c.480-1G>C | ENSP00000377563.2:n.480-1G>C | |
| ENST00000419755.3:c.591-1G>C | ENSP00000398526.3:n.591-1G>C | |
| ENST00000455748.6:c.432+1014G>C | ENSP00000405764.2:n.432+1014G>C | |
| ENST00000524458.5:c.*140-1G>C | ENSP00000436195.1:n.*140-1G>C | |
| ENST00000524907.5:n.575G>C | ||
| ENST00000525809.5:c.207-1G>C | ENSP00000431187.1:n.207-1G>C | |
| ENST00000526035.5:c.*187-1G>C | ENSP00000434197.1:n.*187-1G>C | |
| ENST00000526760.5:c.*187-1G>C | ENSP00000432140.1:n.*187-1G>C | |
| ENST00000527251.5:c.*187-1G>C | ENSP00000434360.1:n.*187-1G>C | |
| ENST00000528543.1:n.1G>C | ||
| ENST00000529766.5:n.487-1G>C | ||
| ENST00000529953.5:n.132-1G>C | ||
| ENST00000529955.5:n.451-1G>C | ||
| ENST00000532908.5:c.*140-1G>C | ENSP00000431866.1:n.*140-1G>C | |
| ENST00000533430.5:n.258-1G>C | ||
| ENST00000533557.5:c.*140-1G>C | ENSP00000434619.1:n.*140-1G>C | |
| ENST00000533644.5:c.433-1G>C | ENSP00000436073.1:n.433-1G>C | |
| ENST00000534730.5:n.492-1G>C | ||
| ENST00000630659.2:c.*187-1G>C | ENSP00000486455.1:n.*187-1G>C | |
| NM_024649.4:c.480-1G>C | NP_078925.3:n.480-1G>C | |
| NM_024649.5:c.480-1G>C MANE Select | NP_078925.3:n.480-1G>C |