Linked Data
ClinVar Variation Id:
310108
ClinVar RCV Id:
RCV000287301
dbSNP Id:
rs764636915
gnomAD v2:
12-6438796-G-C
gnomAD v3:
12-6329630-G-C
gnomAD v4:
12-6329630-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6329630G>C , CM000674.2:g.6329630G>C | GRCh38 |
| NC_000012.11:g.6438796G>C , CM000674.1:g.6438796G>C | GRCh37 |
| NC_000012.10:g.6309057G>C | NCBI36 |
| NG_007506.1:g.17466C>G , LRG_193:g.17466C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.2159-8C>G | ||
| ENST00000437813.8:c.*519-8C>G | ENSP00000513672.1:n.*519-8C>G | |
| ENST00000440083.7:c.1277-8C>G | ENSP00000413224.3:n.1277-8C>G | |
| ENST00000535958.2:c.*885-8C>G | ENSP00000513673.1:n.*885-8C>G | |
| ENST00000698337.1:n.1019-8C>G | ||
| ENST00000698338.1:n.1672-8C>G | ||
| ENST00000698339.1:c.*553-8C>G | ENSP00000513670.1:n.*553-8C>G | |
| ENST00000698340.1:c.*297-8C>G | ENSP00000513671.1:n.*297-8C>G | |
| ENST00000162749.7:c.1058-8C>G MANE Select | ENSP00000162749.2:n.1058-8C>G | |
| ENST00000162749.6:c.1058-8C>G | ENSP00000162749.2:n.1058-8C>G | |
| ENST00000534885.5:c.*535-8C>G | ENSP00000441803.1:n.*535-8C>G | |
| ENST00000536717.5:n.962-8C>G | ||
| ENST00000540022.5:c.929-8C>G | ENSP00000438343.1:n.929-8C>G | |
| ENST00000543359.5:n.470-8C>G | ||
| ENST00000543995.5:c.*645-8C>G | ENSP00000442405.1:n.*645-8C>G | |
| NM_001065.3:c.1058-8C>G , LRG_193t1:c.1058-8C>G | NP_001056.1:n.1058-8C>G | |
| NM_001346091.1:c.734-8C>G | NP_001333020.1:n.734-8C>G | |
| NM_001346092.1:c.599-8C>G | NP_001333021.1:n.599-8C>G | |
| NR_144351.1:n.1287-8C>G | ||
| NM_001065.4:c.1058-8C>G MANE Select | NP_001056.1:n.1058-8C>G | |
| NM_001346091.2:c.734-8C>G | NP_001333020.1:n.734-8C>G | |
| NM_001346092.2:c.599-8C>G | NP_001333021.1:n.599-8C>G | |
| NR_144351.2:n.1246-8C>G |