Linked Data
ClinVar Variation Id:
649500
ClinVar RCV Id:
RCV000804450
dbSNP Id:
rs1592047526
gnomAD v3:
12-6333457-T-C
gnomAD v4:
12-6333457-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333457T>C , CM000674.2:g.6333457T>C | GRCh38 |
| NC_000012.11:g.6442623T>C , CM000674.1:g.6442623T>C | GRCh37 |
| NC_000012.10:g.6312884T>C | NCBI36 |
| NG_007506.1:g.13639A>G , LRG_193:g.13639A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.416A>G | ||
| ENST00000437813.8:c.382A>G | ENSP00000513672.1:p.Arg128Gly | |
| ENST00000440083.7:c.382A>G | ENSP00000413224.3:p.Arg128Gly | |
| ENST00000535958.2:c.*209A>G | ENSP00000513673.1:n.*209A>G | |
| ENST00000698339.1:c.382A>G | ENSP00000513670.1:p.Arg128Gly | |
| ENST00000698340.1:c.382A>G | ENSP00000513671.1:p.Arg128Gly | |
| ENST00000162749.7:c.382A>G MANE Select | ENSP00000162749.2:p.Arg128Gly | |
| ENST00000162749.6:c.382A>G | ENSP00000162749.2:p.Arg128Gly | |
| ENST00000366159.8:c.382A>G | ENSP00000380389.3:p.Arg128Gly | |
| ENST00000437813.7:n.343A>G | ||
| ENST00000440083.6:c.382A>G | ENSP00000413224.2:p.Arg128Gly | |
| ENST00000534885.5:c.228A>G | ENSP00000441803.1:p.Ala76= | |
| ENST00000539372.5:c.382A>G | ENSP00000442059.1:p.Arg128Gly | |
| ENST00000540022.5:c.253A>G | ENSP00000438343.1:p.Arg85Gly | |
| ENST00000543048.5:c.215-6A>G | ENSP00000439981.1:n.215-6A>G | |
| ENST00000543995.5:c.194-6A>G | ENSP00000442405.1:n.194-6A>G | |
| NM_001065.3:c.382A>G , LRG_193t1:c.382A>G | NP_001056.1:p.Arg128Gly | |
| NM_001346091.1:c.58A>G | NP_001333020.1:p.Arg20Gly | |
| NM_001346092.1:c.-196A>G | NP_001333021.1:n.-196A>G | |
| NR_144351.1:n.685A>G | ||
| NM_001065.4:c.382A>G MANE Select | NP_001056.1:p.Arg128Gly | |
| NM_001346091.2:c.58A>G | NP_001333020.1:p.Arg20Gly | |
| NM_001346092.2:c.-196A>G | NP_001333021.1:n.-196A>G | |
| NR_144351.2:n.644A>G |