Linked Data
dbSNP Id:
rs761906638
ExAC:
12:6442270 G / C
gnomAD v2:
12-6442270-G-C
gnomAD v4:
12-6333104-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333104G>C , CM000674.2:g.6333104G>C | GRCh38 |
| NC_000012.11:g.6442270G>C , CM000674.1:g.6442270G>C | GRCh37 |
| NC_000012.10:g.6312531G>C | NCBI36 |
| NG_007506.1:g.13992C>G , LRG_193:g.13992C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.550C>G | ||
| ENST00000437813.8:c.516C>G | ENSP00000513672.1:p.Phe172Leu | |
| ENST00000440083.7:c.735C>G | ENSP00000413224.3:p.Phe245Leu | |
| ENST00000535958.2:c.*343C>G | ENSP00000513673.1:n.*343C>G | |
| ENST00000698339.1:c.516C>G | ENSP00000513670.1:p.Phe172Leu | |
| ENST00000698340.1:c.516C>G | ENSP00000513671.1:p.Phe172Leu | |
| ENST00000162749.7:c.516C>G MANE Select | ENSP00000162749.2:p.Phe172Leu | |
| ENST00000162749.6:c.516C>G | ENSP00000162749.2:p.Phe172Leu | |
| ENST00000366159.8:c.516C>G | ENSP00000380389.3:p.Phe172Leu | |
| ENST00000437813.7:n.477C>G | ||
| ENST00000440083.6:c.735C>G | ENSP00000413224.2:p.Phe245Leu | |
| ENST00000534885.5:c.362C>G | ENSP00000441803.1:p.Ser121Cys | |
| ENST00000537842.5:n.120C>G | ||
| ENST00000539372.5:c.516C>G | ENSP00000442059.1:p.Phe172Leu | |
| ENST00000540022.5:c.387C>G | ENSP00000438343.1:p.Phe129Leu | |
| ENST00000543048.5:c.*127C>G | ENSP00000439981.1:n.*127C>G | |
| ENST00000543359.5:n.2C>G | ||
| ENST00000543995.5:c.*103C>G | ENSP00000442405.1:n.*103C>G | |
| NM_001065.3:c.516C>G , LRG_193t1:c.516C>G | NP_001056.1:p.Phe172Leu | |
| NM_001346091.1:c.192C>G | NP_001333020.1:p.Phe64Leu | |
| NM_001346092.1:c.-62C>G | NP_001333021.1:n.-62C>G | |
| NR_144351.1:n.819C>G | ||
| NM_001065.4:c.516C>G MANE Select | NP_001056.1:p.Phe172Leu | |
| NM_001346091.2:c.192C>G | NP_001333020.1:p.Phe64Leu | |
| NM_001346092.2:c.-62C>G | NP_001333021.1:n.-62C>G | |
| NR_144351.2:n.778C>G |