Linked Data
ClinVar Variation Id:
1996369
ClinVar RCV Id:
RCV002802002
gnomAD v4:
12-6329510-C-A
MyVariant Identifiers:
chr12:g.6438676C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6329510C>A , CM000674.2:g.6329510C>A | GRCh38 |
| NC_000012.11:g.6438676C>A , CM000674.1:g.6438676C>A | GRCh37 |
| NC_000012.10:g.6308937C>A | NCBI36 |
| NG_007506.1:g.17586G>T , LRG_193:g.17586G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.2271G>T | ||
| ENST00000437813.8:c.*631G>T | ENSP00000513672.1:n.*631G>T | |
| ENST00000440083.7:c.1389G>T | ENSP00000413224.3:p.Leu463= | |
| ENST00000535958.2:c.*997G>T | ENSP00000513673.1:n.*997G>T | |
| ENST00000698337.1:n.1131G>T | ||
| ENST00000698338.1:n.1784G>T | ||
| ENST00000698339.1:c.*665G>T | ENSP00000513670.1:n.*665G>T | |
| ENST00000698340.1:c.*409G>T | ENSP00000513671.1:n.*409G>T | |
| ENST00000162749.7:c.1170G>T MANE Select | ENSP00000162749.2:p.Leu390= | |
| ENST00000162749.6:c.1170G>T | ENSP00000162749.2:p.Leu390= | |
| ENST00000534885.5:c.*647G>T | ENSP00000441803.1:n.*647G>T | |
| ENST00000536717.5:n.1074G>T | ||
| ENST00000540022.5:c.1041G>T | ENSP00000438343.1:p.Leu347= | |
| ENST00000543359.5:n.582G>T | ||
| ENST00000543995.5:c.*757G>T | ENSP00000442405.1:n.*757G>T | |
| NM_001065.3:c.1170G>T , LRG_193t1:c.1170G>T | NP_001056.1:p.Leu390= | |
| NM_001346091.1:c.846G>T | NP_001333020.1:p.Leu282= | |
| NM_001346092.1:c.711G>T | NP_001333021.1:p.Leu237= | |
| NR_144351.1:n.1399G>T | ||
| NM_001065.4:c.1170G>T MANE Select | NP_001056.1:p.Leu390= | |
| NM_001346091.2:c.846G>T | NP_001333020.1:p.Leu282= | |
| NM_001346092.2:c.711G>T | NP_001333021.1:p.Leu237= | |
| NR_144351.2:n.1358G>T |