Linked Data
ClinVar Variation Id:
495347
ClinVar RCV Id:
RCV000589599
dbSNP Id:
rs181639417
gnomAD v2:
9-104197990-C-G
gnomAD v3:
9-101435708-C-G
gnomAD v4:
9-101435708-C-G
PubMed:
PMID:20882353
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101435708C>G , CM000671.2:g.101435708C>G | GRCh38 |
| NC_000009.11:g.104197990C>G , CM000671.1:g.104197990C>G | GRCh37 |
| NC_000009.10:g.103237811C>G | NCBI36 |
| NG_012387.1:g.5073G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.-11+1G>C MANE Select | ENSP00000497767.1:n.-11+1G>C | |
| ENST00000648064.1:c.-10-4811G>C | ENSP00000497990.1:n.-10-4811G>C | |
| ENST00000648423.1:c.-11+1G>C | ENSP00000497985.1:n.-11+1G>C | |
| ENST00000648758.1:c.-10-4811G>C | ENSP00000497731.1:n.-10-4811G>C | |
| ENST00000650613.1:n.66+1G>C | ||
| ENST00000374855.8:c.-11+1G>C | ENSP00000363988.4:n.-11+1G>C | |
| ENST00000616752.1:c.-11+1G>C | ENSP00000481363.1:n.-11+1G>C | |
| NM_000035.3:c.-11+1G>C | NP_000026.2:n.-11+1G>C | |
| NM_000035.4:c.-11+1G>C MANE Select | NP_000026.2:n.-11+1G>C |