Linked Data
ClinVar Variation Id:
234742
dbSNP Id:
rs761155688
ExAC:
12:6438794 G / C
gnomAD v2:
12-6438794-G-C
gnomAD v3:
12-6329628-G-C
gnomAD v4:
12-6329628-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6329628G>C , CM000674.2:g.6329628G>C | GRCh38 |
| NC_000012.11:g.6438794G>C , CM000674.1:g.6438794G>C | GRCh37 |
| NC_000012.10:g.6309055G>C | NCBI36 |
| NG_007506.1:g.17468C>G , LRG_193:g.17468C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.2159-6C>G | ||
| ENST00000437813.8:c.*519-6C>G | ENSP00000513672.1:n.*519-6C>G | |
| ENST00000440083.7:c.1277-6C>G | ENSP00000413224.3:n.1277-6C>G | |
| ENST00000535958.2:c.*885-6C>G | ENSP00000513673.1:n.*885-6C>G | |
| ENST00000698337.1:n.1019-6C>G | ||
| ENST00000698338.1:n.1672-6C>G | ||
| ENST00000698339.1:c.*553-6C>G | ENSP00000513670.1:n.*553-6C>G | |
| ENST00000698340.1:c.*297-6C>G | ENSP00000513671.1:n.*297-6C>G | |
| ENST00000162749.7:c.1058-6C>G MANE Select | ENSP00000162749.2:n.1058-6C>G | |
| ENST00000162749.6:c.1058-6C>G | ENSP00000162749.2:n.1058-6C>G | |
| ENST00000534885.5:c.*535-6C>G | ENSP00000441803.1:n.*535-6C>G | |
| ENST00000536717.5:n.962-6C>G | ||
| ENST00000540022.5:c.929-6C>G | ENSP00000438343.1:n.929-6C>G | |
| ENST00000543359.5:n.470-6C>G | ||
| ENST00000543995.5:c.*645-6C>G | ENSP00000442405.1:n.*645-6C>G | |
| NM_001065.3:c.1058-6C>G , LRG_193t1:c.1058-6C>G | NP_001056.1:n.1058-6C>G | |
| NM_001346091.1:c.734-6C>G | NP_001333020.1:n.734-6C>G | |
| NM_001346092.1:c.599-6C>G | NP_001333021.1:n.599-6C>G | |
| NR_144351.1:n.1287-6C>G | ||
| NM_001065.4:c.1058-6C>G MANE Select | NP_001056.1:n.1058-6C>G | |
| NM_001346091.2:c.734-6C>G | NP_001333020.1:n.734-6C>G | |
| NM_001346092.2:c.599-6C>G | NP_001333021.1:n.599-6C>G | |
| NR_144351.2:n.1246-6C>G |