Linked Data
ClinVar Variation Id:
839645
ClinVar RCV Id:
RCV001041448
dbSNP Id:
rs1206840359
gnomAD v2:
12-6442280-T-C
gnomAD v4:
12-6333114-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333114T>C , CM000674.2:g.6333114T>C | GRCh38 |
| NC_000012.11:g.6442280T>C , CM000674.1:g.6442280T>C | GRCh37 |
| NC_000012.10:g.6312541T>C | NCBI36 |
| NG_007506.1:g.13982A>G , LRG_193:g.13982A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.540A>G | ||
| ENST00000437813.8:c.506A>G | ENSP00000513672.1:p.His169Arg | |
| ENST00000440083.7:c.725A>G | ENSP00000413224.3:p.His242Arg | |
| ENST00000535958.2:c.*333A>G | ENSP00000513673.1:n.*333A>G | |
| ENST00000698339.1:c.506A>G | ENSP00000513670.1:p.His169Arg | |
| ENST00000698340.1:c.506A>G | ENSP00000513671.1:p.His169Arg | |
| ENST00000162749.7:c.506A>G MANE Select | ENSP00000162749.2:p.His169Arg | |
| ENST00000162749.6:c.506A>G | ENSP00000162749.2:p.His169Arg | |
| ENST00000366159.8:c.506A>G | ENSP00000380389.3:p.His169Arg | |
| ENST00000437813.7:n.467A>G | ||
| ENST00000440083.6:c.725A>G | ENSP00000413224.2:p.His242Arg | |
| ENST00000534885.5:c.352A>G | ENSP00000441803.1:p.Met118Val | |
| ENST00000537842.5:n.110A>G | ||
| ENST00000539372.5:c.506A>G | ENSP00000442059.1:p.His169Arg | |
| ENST00000540022.5:c.377A>G | ENSP00000438343.1:p.His126Arg | |
| ENST00000543048.5:c.*117A>G | ENSP00000439981.1:n.*117A>G | |
| ENST00000543995.5:c.*93A>G | ENSP00000442405.1:n.*93A>G | |
| NM_001065.3:c.506A>G , LRG_193t1:c.506A>G | NP_001056.1:p.His169Arg | |
| NM_001346091.1:c.182A>G | NP_001333020.1:p.His61Arg | |
| NM_001346092.1:c.-72A>G | NP_001333021.1:n.-72A>G | |
| NR_144351.1:n.809A>G | ||
| NM_001065.4:c.506A>G MANE Select | NP_001056.1:p.His169Arg | |
| NM_001346091.2:c.182A>G | NP_001333020.1:p.His61Arg | |
| NM_001346092.2:c.-72A>G | NP_001333021.1:n.-72A>G | |
| NR_144351.2:n.768A>G |