Linked Data
ClinVar Variation Id:
310106
dbSNP Id:
rs148334665
ExAC:
12:6438640 G / A
gnomAD v2:
12-6438640-G-A
gnomAD v3:
12-6329474-G-A
gnomAD v4:
12-6329474-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6329474G>A , CM000674.2:g.6329474G>A | GRCh38 |
| NC_000012.11:g.6438640G>A , CM000674.1:g.6438640G>A | GRCh37 |
| NC_000012.10:g.6308901G>A | NCBI36 |
| NG_007506.1:g.17622C>T , LRG_193:g.17622C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.2307C>T | ||
| ENST00000437813.8:c.*667C>T | ENSP00000513672.1:n.*667C>T | |
| ENST00000440083.7:c.1425C>T | ENSP00000413224.3:p.Ser475= | |
| ENST00000535958.2:c.*1033C>T | ENSP00000513673.1:n.*1033C>T | |
| ENST00000698337.1:n.1167C>T | ||
| ENST00000698338.1:n.1820C>T | ||
| ENST00000698339.1:c.*701C>T | ENSP00000513670.1:n.*701C>T | |
| ENST00000698340.1:c.*445C>T | ENSP00000513671.1:n.*445C>T | |
| ENST00000162749.7:c.1206C>T MANE Select | ENSP00000162749.2:p.Ser402= | |
| ENST00000162749.6:c.1206C>T | ENSP00000162749.2:p.Ser402= | |
| ENST00000534885.5:c.*683C>T | ENSP00000441803.1:n.*683C>T | |
| ENST00000536717.5:n.1110C>T | ||
| ENST00000540022.5:c.1077C>T | ENSP00000438343.1:p.Ser359= | |
| ENST00000543359.5:n.618C>T | ||
| ENST00000543995.5:c.*793C>T | ENSP00000442405.1:n.*793C>T | |
| NM_001065.3:c.1206C>T , LRG_193t1:c.1206C>T | NP_001056.1:p.Ser402= | |
| NM_001346091.1:c.882C>T | NP_001333020.1:p.Ser294= | |
| NM_001346092.1:c.747C>T | NP_001333021.1:p.Ser249= | |
| NR_144351.1:n.1435C>T | ||
| NM_001065.4:c.1206C>T MANE Select | NP_001056.1:p.Ser402= | |
| NM_001346091.2:c.882C>T | NP_001333020.1:p.Ser294= | |
| NM_001346092.2:c.747C>T | NP_001333021.1:p.Ser249= | |
| NR_144351.2:n.1394C>T |