Linked Data
ClinVar Variation Id:
1364077
ClinVar RCV Id:
RCV001905223
dbSNP Id:
rs773708644
ExAC:
12:6443291 T / C
gnomAD v2:
12-6443291-T-C
gnomAD v3:
12-6334125-T-C
gnomAD v4:
12-6334125-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6334125T>C , CM000674.2:g.6334125T>C | GRCh38 |
| NC_000012.11:g.6443291T>C , CM000674.1:g.6443291T>C | GRCh37 |
| NC_000012.10:g.6313552T>C | NCBI36 |
| NG_007506.1:g.12971A>G , LRG_193:g.12971A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.193A>G | ||
| ENST00000437813.8:c.159A>G | ENSP00000513672.1:p.Gln53= | |
| ENST00000440083.7:c.159A>G | ENSP00000413224.3:p.Gln53= | |
| ENST00000535958.2:c.159A>G | ENSP00000513673.1:p.Gln53= | |
| ENST00000698339.1:c.159A>G | ENSP00000513670.1:p.Gln53= | |
| ENST00000698340.1:c.159A>G | ENSP00000513671.1:p.Gln53= | |
| ENST00000162749.7:c.159A>G MANE Select | ENSP00000162749.2:p.Gln53= | |
| ENST00000162749.6:c.159A>G | ENSP00000162749.2:p.Gln53= | |
| ENST00000366159.8:c.159A>G | ENSP00000380389.3:p.Gln53= | |
| ENST00000437813.7:n.120A>G | ||
| ENST00000440083.6:c.159A>G | ENSP00000413224.2:p.Gln53= | |
| ENST00000534885.5:c.40-260A>G | ENSP00000441803.1:n.40-260A>G | |
| ENST00000535958.1:n.380A>G | ||
| ENST00000536194.1:c.159A>G | ENSP00000442919.1:p.Gln53= | |
| ENST00000538363.1:n.349A>G | ||
| ENST00000539372.5:c.159A>G | ENSP00000442059.1:p.Gln53= | |
| ENST00000540022.5:c.159A>G | ENSP00000438343.1:p.Gln53= | |
| ENST00000543048.5:c.159A>G | ENSP00000439981.1:p.Gln53= | |
| ENST00000543995.5:c.159A>G | ENSP00000442405.1:p.Gln53= | |
| NM_001065.3:c.159A>G , LRG_193t1:c.159A>G | NP_001056.1:p.Gln53= | |
| NM_001346091.1:c.-131-260A>G | NP_001333020.1:n.-131-260A>G | |
| NM_001346092.1:c.-419A>G | NP_001333021.1:n.-419A>G | |
| NR_144351.1:n.462A>G | ||
| NM_001065.4:c.159A>G MANE Select | NP_001056.1:p.Gln53= | |
| NM_001346091.2:c.-131-260A>G | NP_001333020.1:n.-131-260A>G | |
| NM_001346092.2:c.-419A>G | NP_001333021.1:n.-419A>G | |
| NR_144351.2:n.421A>G |