Linked Data
dbSNP Id:
rs767551055
ExAC:
12:6439849 A / G
gnomAD v2:
12-6439849-A-G
gnomAD v4:
12-6330683-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6330683A>G , CM000674.2:g.6330683A>G | GRCh38 |
| NC_000012.11:g.6439849A>G , CM000674.1:g.6439849A>G | GRCh37 |
| NC_000012.10:g.6310110A>G | NCBI36 |
| NG_007506.1:g.16413T>C , LRG_193:g.16413T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.1755T>C | ||
| ENST00000437813.8:c.*115T>C | ENSP00000513672.1:n.*115T>C | |
| ENST00000440083.7:c.873T>C | ENSP00000413224.3:p.Ile291= | |
| ENST00000535038.2:n.836T>C | ||
| ENST00000535958.2:c.*481T>C | ENSP00000513673.1:n.*481T>C | |
| ENST00000698337.1:n.644T>C | ||
| ENST00000698338.1:n.1068T>C | ||
| ENST00000698339.1:c.*149T>C | ENSP00000513670.1:n.*149T>C | |
| ENST00000698340.1:c.580T>C | ENSP00000513671.1:p.Phe194Leu | |
| ENST00000162749.7:c.654T>C MANE Select | ENSP00000162749.2:p.Ile218= | |
| ENST00000162749.6:c.654T>C | ENSP00000162749.2:p.Ile218= | |
| ENST00000534885.5:c.*131T>C | ENSP00000441803.1:n.*131T>C | |
| ENST00000535038.1:n.465T>C | ||
| ENST00000536717.5:n.558T>C | ||
| ENST00000537842.5:n.258T>C | ||
| ENST00000539372.5:c.654T>C | ENSP00000442059.1:p.Ile218= | |
| ENST00000540022.5:c.525T>C | ENSP00000438343.1:p.Ile175= | |
| ENST00000543359.5:n.66T>C | ||
| ENST00000543995.5:c.*241T>C | ENSP00000442405.1:n.*241T>C | |
| NM_001065.3:c.654T>C , LRG_193t1:c.654T>C | NP_001056.1:p.Ile218= | |
| NM_001346091.1:c.330T>C | NP_001333020.1:p.Ile110= | |
| NM_001346092.1:c.195T>C | NP_001333021.1:p.Ile65= | |
| NR_144351.1:n.883T>C | ||
| NM_001065.4:c.654T>C MANE Select | NP_001056.1:p.Ile218= | |
| NM_001346091.2:c.330T>C | NP_001333020.1:p.Ile110= | |
| NM_001346092.2:c.195T>C | NP_001333021.1:p.Ile65= | |
| NR_144351.2:n.842T>C |