Linked Data
ClinVar Variation Id:
1004791
ClinVar RCV Id:
RCV001301554
dbSNP Id:
rs1948041880
gnomAD v4:
12-6330874-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6330874C>T , CM000674.2:g.6330874C>T | GRCh38 |
| NC_000012.11:g.6440040C>T , CM000674.1:g.6440040C>T | GRCh37 |
| NC_000012.10:g.6310301C>T | NCBI36 |
| NG_007506.1:g.16222G>A , LRG_193:g.16222G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.1705G>A | ||
| ENST00000437813.8:c.*65G>A | ENSP00000513672.1:n.*65G>A | |
| ENST00000440083.7:c.823G>A | ENSP00000413224.3:p.Val275Ile | |
| ENST00000535038.2:n.786G>A | ||
| ENST00000535958.2:c.*431G>A | ENSP00000513673.1:n.*431G>A | |
| ENST00000698337.1:n.453G>A | ||
| ENST00000698338.1:n.877G>A | ||
| ENST00000698339.1:c.*99G>A | ENSP00000513670.1:n.*99G>A | |
| ENST00000698340.1:c.552-163G>A | ENSP00000513671.1:n.552-163G>A | |
| ENST00000162749.7:c.604G>A MANE Select | ENSP00000162749.2:p.Val202Ile | |
| ENST00000162749.6:c.604G>A | ENSP00000162749.2:p.Val202Ile | |
| ENST00000534885.5:c.*81G>A | ENSP00000441803.1:n.*81G>A | |
| ENST00000535038.1:n.274G>A | ||
| ENST00000536717.5:n.508G>A | ||
| ENST00000537842.5:n.208G>A | ||
| ENST00000539372.5:c.604G>A | ENSP00000442059.1:p.Val202Ile | |
| ENST00000540022.5:c.475G>A | ENSP00000438343.1:p.Val159Ile | |
| ENST00000543359.5:n.38-163G>A | ||
| ENST00000543995.5:c.*191G>A | ENSP00000442405.1:n.*191G>A | |
| NM_001065.3:c.604G>A , LRG_193t1:c.604G>A | NP_001056.1:p.Val202Ile | |
| NM_001346091.1:c.280G>A | NP_001333020.1:p.Val94Ile | |
| NM_001346092.1:c.145G>A | NP_001333021.1:p.Val49Ile | |
| NR_144351.1:n.855-163G>A | ||
| NM_001065.4:c.604G>A MANE Select | NP_001056.1:p.Val202Ile | |
| NM_001346091.2:c.280G>A | NP_001333020.1:p.Val94Ile | |
| NM_001346092.2:c.145G>A | NP_001333021.1:p.Val49Ile | |
| NR_144351.2:n.814-163G>A |