Linked Data
ClinVar Variation Id:
137680
dbSNP Id:
rs147075345
ExAC:
12:6439858 G / A
gnomAD v2:
12-6439858-G-A
gnomAD v3:
12-6330692-G-A
gnomAD v4:
12-6330692-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6330692G>A , CM000674.2:g.6330692G>A | GRCh38 |
| NC_000012.11:g.6439858G>A , CM000674.1:g.6439858G>A | GRCh37 |
| NC_000012.10:g.6310119G>A | NCBI36 |
| NG_007506.1:g.16404C>T , LRG_193:g.16404C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.1746C>T | ||
| ENST00000437813.8:c.*106C>T | ENSP00000513672.1:n.*106C>T | |
| ENST00000440083.7:c.864C>T | ENSP00000413224.3:p.Pro288= | |
| ENST00000535038.2:n.827C>T | ||
| ENST00000535958.2:c.*472C>T | ENSP00000513673.1:n.*472C>T | |
| ENST00000698337.1:n.635C>T | ||
| ENST00000698338.1:n.1059C>T | ||
| ENST00000698339.1:c.*140C>T | ENSP00000513670.1:n.*140C>T | |
| ENST00000698340.1:c.571C>T | ENSP00000513671.1:p.Pro191Ser | |
| ENST00000162749.7:c.645C>T MANE Select | ENSP00000162749.2:p.Pro215= | |
| ENST00000162749.6:c.645C>T | ENSP00000162749.2:p.Pro215= | |
| ENST00000534885.5:c.*122C>T | ENSP00000441803.1:n.*122C>T | |
| ENST00000535038.1:n.456C>T | ||
| ENST00000536717.5:n.549C>T | ||
| ENST00000537842.5:n.249C>T | ||
| ENST00000539372.5:c.645C>T | ENSP00000442059.1:p.Pro215= | |
| ENST00000540022.5:c.516C>T | ENSP00000438343.1:p.Pro172= | |
| ENST00000543359.5:n.57C>T | ||
| ENST00000543995.5:c.*232C>T | ENSP00000442405.1:n.*232C>T | |
| NM_001065.3:c.645C>T , LRG_193t1:c.645C>T | NP_001056.1:p.Pro215= | |
| NM_001346091.1:c.321C>T | NP_001333020.1:p.Pro107= | |
| NM_001346092.1:c.186C>T | NP_001333021.1:p.Pro62= | |
| NR_144351.1:n.874C>T | ||
| NM_001065.4:c.645C>T MANE Select | NP_001056.1:p.Pro215= | |
| NM_001346091.2:c.321C>T | NP_001333020.1:p.Pro107= | |
| NM_001346092.2:c.186C>T | NP_001333021.1:p.Pro62= | |
| NR_144351.2:n.833C>T |