Linked Data
dbSNP Id:
rs751413473
gnomAD v2:
12-6440026-C-A
gnomAD v3:
12-6330860-C-A
gnomAD v4:
12-6330860-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6330860C>A , CM000674.2:g.6330860C>A | GRCh38 |
| NC_000012.11:g.6440026C>A , CM000674.1:g.6440026C>A | GRCh37 |
| NC_000012.10:g.6310287C>A | NCBI36 |
| NG_007506.1:g.16236G>T , LRG_193:g.16236G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.1719G>T | ||
| ENST00000437813.8:c.*79G>T | ENSP00000513672.1:n.*79G>T | |
| ENST00000440083.7:c.837G>T | ENSP00000413224.3:p.Glu279Asp | |
| ENST00000535038.2:n.800G>T | ||
| ENST00000535958.2:c.*445G>T | ENSP00000513673.1:n.*445G>T | |
| ENST00000698337.1:n.467G>T | ||
| ENST00000698338.1:n.891G>T | ||
| ENST00000698339.1:c.*113G>T | ENSP00000513670.1:n.*113G>T | |
| ENST00000698340.1:c.552-149G>T | ENSP00000513671.1:n.552-149G>T | |
| ENST00000162749.7:c.618G>T MANE Select | ENSP00000162749.2:p.Glu206Asp | |
| ENST00000162749.6:c.618G>T | ENSP00000162749.2:p.Glu206Asp | |
| ENST00000534885.5:c.*95G>T | ENSP00000441803.1:n.*95G>T | |
| ENST00000535038.1:n.288G>T | ||
| ENST00000536717.5:n.522G>T | ||
| ENST00000537842.5:n.222G>T | ||
| ENST00000539372.5:c.618G>T | ENSP00000442059.1:p.Glu206Asp | |
| ENST00000540022.5:c.489G>T | ENSP00000438343.1:p.Glu163Asp | |
| ENST00000543359.5:n.38-149G>T | ||
| ENST00000543995.5:c.*205G>T | ENSP00000442405.1:n.*205G>T | |
| NM_001065.3:c.618G>T , LRG_193t1:c.618G>T | NP_001056.1:p.Glu206Asp | |
| NM_001346091.1:c.294G>T | NP_001333020.1:p.Glu98Asp | |
| NM_001346092.1:c.159G>T | NP_001333021.1:p.Glu53Asp | |
| NR_144351.1:n.855-149G>T | ||
| NM_001065.4:c.618G>T MANE Select | NP_001056.1:p.Glu206Asp | |
| NM_001346091.2:c.294G>T | NP_001333020.1:p.Glu98Asp | |
| NM_001346092.2:c.159G>T | NP_001333021.1:p.Glu53Asp | |
| NR_144351.2:n.814-149G>T |