Linked Data
dbSNP Id:
rs1948042341
gnomAD v3:
12-6330896-C-T
gnomAD v4:
12-6330896-C-T
MyVariant Identifiers:
chr12:g.6440062C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6330896C>T , CM000674.2:g.6330896C>T | GRCh38 |
| NC_000012.11:g.6440062C>T , CM000674.1:g.6440062C>T | GRCh37 |
| NC_000012.10:g.6310323C>T | NCBI36 |
| NG_007506.1:g.16200G>A , LRG_193:g.16200G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.1683G>A | ||
| ENST00000437813.8:c.*43G>A | ENSP00000513672.1:n.*43G>A | |
| ENST00000440083.7:c.801G>A | ENSP00000413224.3:p.Leu267= | |
| ENST00000535038.2:n.764G>A | ||
| ENST00000535958.2:c.*409G>A | ENSP00000513673.1:n.*409G>A | |
| ENST00000698337.1:n.431G>A | ||
| ENST00000698338.1:n.855G>A | ||
| ENST00000698339.1:c.*77G>A | ENSP00000513670.1:n.*77G>A | |
| ENST00000698340.1:c.552-185G>A | ENSP00000513671.1:n.552-185G>A | |
| ENST00000162749.7:c.582G>A MANE Select | ENSP00000162749.2:p.Leu194= | |
| ENST00000162749.6:c.582G>A | ENSP00000162749.2:p.Leu194= | |
| ENST00000534885.5:c.*59G>A | ENSP00000441803.1:n.*59G>A | |
| ENST00000535038.1:n.252G>A | ||
| ENST00000536717.5:n.486G>A | ||
| ENST00000537842.5:n.186G>A | ||
| ENST00000539372.5:c.582G>A | ENSP00000442059.1:p.Leu194= | |
| ENST00000540022.5:c.453G>A | ENSP00000438343.1:p.Leu151= | |
| ENST00000543359.5:n.38-185G>A | ||
| ENST00000543995.5:c.*169G>A | ENSP00000442405.1:n.*169G>A | |
| NM_001065.3:c.582G>A , LRG_193t1:c.582G>A | NP_001056.1:p.Leu194= | |
| NM_001346091.1:c.258G>A | NP_001333020.1:p.Leu86= | |
| NM_001346092.1:c.123G>A | NP_001333021.1:p.Leu41= | |
| NR_144351.1:n.855-185G>A | ||
| NM_001065.4:c.582G>A MANE Select | NP_001056.1:p.Leu194= | |
| NM_001346091.2:c.258G>A | NP_001333020.1:p.Leu86= | |
| NM_001346092.2:c.123G>A | NP_001333021.1:p.Leu41= | |
| NR_144351.2:n.814-185G>A |