Linked Data
dbSNP Id:
rs754522986
ExAC:
12:6440038 A / C
gnomAD v2:
12-6440038-A-C
gnomAD v4:
12-6330872-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6330872A>C , CM000674.2:g.6330872A>C | GRCh38 |
| NC_000012.11:g.6440038A>C , CM000674.1:g.6440038A>C | GRCh37 |
| NC_000012.10:g.6310299A>C | NCBI36 |
| NG_007506.1:g.16224T>G , LRG_193:g.16224T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.1707T>G | ||
| ENST00000437813.8:c.*67T>G | ENSP00000513672.1:n.*67T>G | |
| ENST00000440083.7:c.825T>G | ENSP00000413224.3:p.Val275= | |
| ENST00000535038.2:n.788T>G | ||
| ENST00000535958.2:c.*433T>G | ENSP00000513673.1:n.*433T>G | |
| ENST00000698337.1:n.455T>G | ||
| ENST00000698338.1:n.879T>G | ||
| ENST00000698339.1:c.*101T>G | ENSP00000513670.1:n.*101T>G | |
| ENST00000698340.1:c.552-161T>G | ENSP00000513671.1:n.552-161T>G | |
| ENST00000162749.7:c.606T>G MANE Select | ENSP00000162749.2:p.Val202= | |
| ENST00000162749.6:c.606T>G | ENSP00000162749.2:p.Val202= | |
| ENST00000534885.5:c.*83T>G | ENSP00000441803.1:n.*83T>G | |
| ENST00000535038.1:n.276T>G | ||
| ENST00000536717.5:n.510T>G | ||
| ENST00000537842.5:n.210T>G | ||
| ENST00000539372.5:c.606T>G | ENSP00000442059.1:p.Val202= | |
| ENST00000540022.5:c.477T>G | ENSP00000438343.1:p.Val159= | |
| ENST00000543359.5:n.38-161T>G | ||
| ENST00000543995.5:c.*193T>G | ENSP00000442405.1:n.*193T>G | |
| NM_001065.3:c.606T>G , LRG_193t1:c.606T>G | NP_001056.1:p.Val202= | |
| NM_001346091.1:c.282T>G | NP_001333020.1:p.Val94= | |
| NM_001346092.1:c.147T>G | NP_001333021.1:p.Val49= | |
| NR_144351.1:n.855-161T>G | ||
| NM_001065.4:c.606T>G MANE Select | NP_001056.1:p.Val202= | |
| NM_001346091.2:c.282T>G | NP_001333020.1:p.Val94= | |
| NM_001346092.2:c.147T>G | NP_001333021.1:p.Val49= | |
| NR_144351.2:n.814-161T>G |